esv3848509

Organism: Homo sapiens

Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:35
Validation:Not tested
Clinical Assertions: No
Region Size:45,449

Publication(s):1000 Genomes Consortium Phase 3 Integrated SV

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 375 SVs from 70 studies. See in: genome view

Remapped(Score: Perfect):16,355,257-16,400,705

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3848509	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	16,355,257	16,400,705
esv3848509	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	16,394,882	16,440,330

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv20556290	copy number loss	HG03446	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,817
essv20556291	copy number gain	HG00130	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,127
essv20556292	copy number gain	HG00350	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,083
essv20556293	copy number gain	HG00351	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,416
essv20556294	copy number gain	HG00355	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,007
essv20556295	copy number gain	HG01277	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,311
essv20556296	copy number gain	HG01372	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,363
essv20556297	copy number gain	HG01628	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,165
essv20556298	copy number gain	HG02088	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,386
essv20556299	copy number gain	HG02090	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,448
essv20556300	copy number gain	HG02285	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,401
essv20556301	copy number gain	HG03225	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,094
essv20556302	copy number gain	NA18639	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,409
essv20556303	copy number gain	NA18642	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,139
essv20556304	copy number gain	NA18745	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,442
essv20556305	copy number gain	NA18747	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,391
essv20556306	copy number gain	NA18757	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,430
essv20556307	copy number gain	NA19077	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,077
essv20556308	copy number gain	NA19080	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	2,988
essv20556309	copy number gain	NA19083	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,398
essv20556310	copy number gain	NA19090	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,402
essv20556311	copy number gain	NA19091	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,616
essv20556312	copy number gain	NA19149	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,562
essv20556313	copy number gain	NA19189	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,039
essv20556314	copy number gain	NA19431	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,311
essv20556315	copy number gain	NA19451	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,770
essv20556316	copy number gain	NA19734	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,150
essv20556317	copy number gain	NA19913	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,809
essv20556318	copy number gain	NA20298	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,743
essv20556319	copy number gain	NA20757	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,362
essv20556320	copy number gain	NA20763	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,547
essv20556321	copy number gain	NA20767	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,603
essv20556322	copy number gain	NA20775	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,419
essv20556323	copy number gain	NA21130	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,714
essv20556324	copy number gain	NA21135	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,675

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv20556290	Remapped	Perfect	NC_000007.14:g.163 55257_16400705del	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,355,257	16,400,705
essv20556291	Remapped	Perfect	NC_000007.14:g.163 55257_16400705dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,355,257	16,400,705
essv20556292	Remapped	Perfect	NC_000007.14:g.163 55257_16400705dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,355,257	16,400,705
essv20556293	Remapped	Perfect	NC_000007.14:g.163 55257_16400705dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,355,257	16,400,705
essv20556294	Remapped	Perfect	NC_000007.14:g.163 55257_16400705dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,355,257	16,400,705
essv20556295	Remapped	Perfect	NC_000007.14:g.163 55257_16400705dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,355,257	16,400,705
essv20556296	Remapped	Perfect	NC_000007.14:g.163 55257_16400705dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,355,257	16,400,705
essv20556297	Remapped	Perfect	NC_000007.14:g.163 55257_16400705dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,355,257	16,400,705
essv20556298	Remapped	Perfect	NC_000007.14:g.163 55257_16400705dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,355,257	16,400,705
essv20556299	Remapped	Perfect	NC_000007.14:g.163 55257_16400705dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,355,257	16,400,705
essv20556300	Remapped	Perfect	NC_000007.14:g.163 55257_16400705dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,355,257	16,400,705
essv20556301	Remapped	Perfect	NC_000007.14:g.163 55257_16400705dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,355,257	16,400,705
essv20556302	Remapped	Perfect	NC_000007.14:g.163 55257_16400705dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,355,257	16,400,705
essv20556303	Remapped	Perfect	NC_000007.14:g.163 55257_16400705dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,355,257	16,400,705
essv20556304	Remapped	Perfect	NC_000007.14:g.163 55257_16400705dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,355,257	16,400,705
essv20556305	Remapped	Perfect	NC_000007.14:g.163 55257_16400705dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,355,257	16,400,705
essv20556306	Remapped	Perfect	NC_000007.14:g.163 55257_16400705dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,355,257	16,400,705
essv20556307	Remapped	Perfect	NC_000007.14:g.163 55257_16400705dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,355,257	16,400,705
essv20556308	Remapped	Perfect	NC_000007.14:g.163 55257_16400705dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,355,257	16,400,705
essv20556309	Remapped	Perfect	NC_000007.14:g.163 55257_16400705dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,355,257	16,400,705
essv20556310	Remapped	Perfect	NC_000007.14:g.163 55257_16400705dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,355,257	16,400,705
essv20556311	Remapped	Perfect	NC_000007.14:g.163 55257_16400705dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,355,257	16,400,705
essv20556312	Remapped	Perfect	NC_000007.14:g.163 55257_16400705dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,355,257	16,400,705
essv20556313	Remapped	Perfect	NC_000007.14:g.163 55257_16400705dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,355,257	16,400,705
essv20556314	Remapped	Perfect	NC_000007.14:g.163 55257_16400705dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,355,257	16,400,705
essv20556315	Remapped	Perfect	NC_000007.14:g.163 55257_16400705dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,355,257	16,400,705
essv20556316	Remapped	Perfect	NC_000007.14:g.163 55257_16400705dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,355,257	16,400,705
essv20556317	Remapped	Perfect	NC_000007.14:g.163 55257_16400705dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,355,257	16,400,705
essv20556318	Remapped	Perfect	NC_000007.14:g.163 55257_16400705dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,355,257	16,400,705
essv20556319	Remapped	Perfect	NC_000007.14:g.163 55257_16400705dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,355,257	16,400,705
essv20556320	Remapped	Perfect	NC_000007.14:g.163 55257_16400705dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,355,257	16,400,705
essv20556321	Remapped	Perfect	NC_000007.14:g.163 55257_16400705dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,355,257	16,400,705
essv20556322	Remapped	Perfect	NC_000007.14:g.163 55257_16400705dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,355,257	16,400,705
essv20556323	Remapped	Perfect	NC_000007.14:g.163 55257_16400705dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,355,257	16,400,705
essv20556324	Remapped	Perfect	NC_000007.14:g.163 55257_16400705dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,355,257	16,400,705
essv20556290	Submitted genomic		NC_000007.13:g.163 94882_16440330del	GRCh37 (hg19)		NC_000007.13	Chr7	16,394,882	16,440,330
essv20556291	Submitted genomic		NC_000007.13:g.163 94882_16440330dup	GRCh37 (hg19)		NC_000007.13	Chr7	16,394,882	16,440,330
essv20556292	Submitted genomic		NC_000007.13:g.163 94882_16440330dup	GRCh37 (hg19)		NC_000007.13	Chr7	16,394,882	16,440,330
essv20556293	Submitted genomic		NC_000007.13:g.163 94882_16440330dup	GRCh37 (hg19)		NC_000007.13	Chr7	16,394,882	16,440,330
essv20556294	Submitted genomic		NC_000007.13:g.163 94882_16440330dup	GRCh37 (hg19)		NC_000007.13	Chr7	16,394,882	16,440,330
essv20556295	Submitted genomic		NC_000007.13:g.163 94882_16440330dup	GRCh37 (hg19)		NC_000007.13	Chr7	16,394,882	16,440,330
essv20556296	Submitted genomic		NC_000007.13:g.163 94882_16440330dup	GRCh37 (hg19)		NC_000007.13	Chr7	16,394,882	16,440,330
essv20556297	Submitted genomic		NC_000007.13:g.163 94882_16440330dup	GRCh37 (hg19)		NC_000007.13	Chr7	16,394,882	16,440,330
essv20556298	Submitted genomic		NC_000007.13:g.163 94882_16440330dup	GRCh37 (hg19)		NC_000007.13	Chr7	16,394,882	16,440,330
essv20556299	Submitted genomic		NC_000007.13:g.163 94882_16440330dup	GRCh37 (hg19)		NC_000007.13	Chr7	16,394,882	16,440,330
essv20556300	Submitted genomic		NC_000007.13:g.163 94882_16440330dup	GRCh37 (hg19)		NC_000007.13	Chr7	16,394,882	16,440,330
essv20556301	Submitted genomic		NC_000007.13:g.163 94882_16440330dup	GRCh37 (hg19)		NC_000007.13	Chr7	16,394,882	16,440,330
essv20556302	Submitted genomic		NC_000007.13:g.163 94882_16440330dup	GRCh37 (hg19)		NC_000007.13	Chr7	16,394,882	16,440,330
essv20556303	Submitted genomic		NC_000007.13:g.163 94882_16440330dup	GRCh37 (hg19)		NC_000007.13	Chr7	16,394,882	16,440,330
essv20556304	Submitted genomic		NC_000007.13:g.163 94882_16440330dup	GRCh37 (hg19)		NC_000007.13	Chr7	16,394,882	16,440,330
essv20556305	Submitted genomic		NC_000007.13:g.163 94882_16440330dup	GRCh37 (hg19)		NC_000007.13	Chr7	16,394,882	16,440,330
essv20556306	Submitted genomic		NC_000007.13:g.163 94882_16440330dup	GRCh37 (hg19)		NC_000007.13	Chr7	16,394,882	16,440,330
essv20556307	Submitted genomic		NC_000007.13:g.163 94882_16440330dup	GRCh37 (hg19)		NC_000007.13	Chr7	16,394,882	16,440,330
essv20556308	Submitted genomic		NC_000007.13:g.163 94882_16440330dup	GRCh37 (hg19)		NC_000007.13	Chr7	16,394,882	16,440,330
essv20556309	Submitted genomic		NC_000007.13:g.163 94882_16440330dup	GRCh37 (hg19)		NC_000007.13	Chr7	16,394,882	16,440,330
essv20556310	Submitted genomic		NC_000007.13:g.163 94882_16440330dup	GRCh37 (hg19)		NC_000007.13	Chr7	16,394,882	16,440,330
essv20556311	Submitted genomic		NC_000007.13:g.163 94882_16440330dup	GRCh37 (hg19)		NC_000007.13	Chr7	16,394,882	16,440,330
essv20556312	Submitted genomic		NC_000007.13:g.163 94882_16440330dup	GRCh37 (hg19)		NC_000007.13	Chr7	16,394,882	16,440,330
essv20556313	Submitted genomic		NC_000007.13:g.163 94882_16440330dup	GRCh37 (hg19)		NC_000007.13	Chr7	16,394,882	16,440,330
essv20556314	Submitted genomic		NC_000007.13:g.163 94882_16440330dup	GRCh37 (hg19)		NC_000007.13	Chr7	16,394,882	16,440,330
essv20556315	Submitted genomic		NC_000007.13:g.163 94882_16440330dup	GRCh37 (hg19)		NC_000007.13	Chr7	16,394,882	16,440,330
essv20556316	Submitted genomic		NC_000007.13:g.163 94882_16440330dup	GRCh37 (hg19)		NC_000007.13	Chr7	16,394,882	16,440,330
essv20556317	Submitted genomic		NC_000007.13:g.163 94882_16440330dup	GRCh37 (hg19)		NC_000007.13	Chr7	16,394,882	16,440,330
essv20556318	Submitted genomic		NC_000007.13:g.163 94882_16440330dup	GRCh37 (hg19)		NC_000007.13	Chr7	16,394,882	16,440,330
essv20556319	Submitted genomic		NC_000007.13:g.163 94882_16440330dup	GRCh37 (hg19)		NC_000007.13	Chr7	16,394,882	16,440,330
essv20556320	Submitted genomic		NC_000007.13:g.163 94882_16440330dup	GRCh37 (hg19)		NC_000007.13	Chr7	16,394,882	16,440,330
essv20556321	Submitted genomic		NC_000007.13:g.163 94882_16440330dup	GRCh37 (hg19)		NC_000007.13	Chr7	16,394,882	16,440,330
essv20556322	Submitted genomic		NC_000007.13:g.163 94882_16440330dup	GRCh37 (hg19)		NC_000007.13	Chr7	16,394,882	16,440,330
essv20556323	Submitted genomic		NC_000007.13:g.163 94882_16440330dup	GRCh37 (hg19)		NC_000007.13	Chr7	16,394,882	16,440,330
essv20556324	Submitted genomic		NC_000007.13:g.163 94882_16440330dup	GRCh37 (hg19)		NC_000007.13	Chr7	16,394,882	16,440,330

dbVar

Database of genomic structural variation

esv3848509

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.