esv3885103

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:19,305

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: 193 SVs from 44 studies. See in: genome view

Remapped(Score: Perfect):23,186,564-23,205,868

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3885103	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	23,186,564	23,205,868
esv3885103	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000020.10	Chr20	23,167,201	23,186,505

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv24803136	deletion	HG01619	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,482
essv24803137	deletion	HG02090	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Homozygous	3,448
essv24803138	deletion	HG02429	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,174
essv24803139	deletion	HG02497	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,514
essv24803140	deletion	HG02505	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,066
essv24803141	deletion	HG02536	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,450
essv24803142	deletion	HG02549	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,040
essv24803143	deletion	HG02759	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,148
essv24803144	deletion	HG02771	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,178
essv24803145	deletion	HG02799	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,947
essv24803146	deletion	HG03085	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,941
essv24803147	deletion	HG03120	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,174
essv24803148	deletion	HG03168	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,002
essv24803149	deletion	HG03169	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,796
essv24803150	deletion	HG03265	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,297
essv24803151	deletion	HG03419	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,686
essv24803152	deletion	HG03538	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,894
essv24803153	deletion	HG03565	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,945
essv24803154	deletion	HG03572	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,576
essv24803155	deletion	HG03577	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,990
essv24803156	deletion	NA18871	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,552
essv24803157	deletion	NA18876	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,013
essv24803158	deletion	NA19025	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,206
essv24803159	deletion	NA19092	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,988
essv24803160	deletion	NA19116	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,717
essv24803161	deletion	NA19159	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,279
essv24803162	deletion	NA19171	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,833
essv24803163	deletion	NA19210	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,283
essv24803164	deletion	NA19239	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,426
essv24803165	deletion	NA19257	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,064
essv24803166	deletion	NA19312	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,772
essv24803167	deletion	NA19314	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,425
essv24803168	deletion	NA19707	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,605
essv24803169	deletion	NA19909	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,811
essv24803170	deletion	NA20287	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,056

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv24803136	Remapped	Perfect	NC_000020.11:g.231 86564_23205868del	GRCh38.p12	First Pass	NC_000020.11	Chr20	23,186,564	23,205,868
essv24803137	Remapped	Perfect	NC_000020.11:g.231 86564_23205868del	GRCh38.p12	First Pass	NC_000020.11	Chr20	23,186,564	23,205,868
essv24803138	Remapped	Perfect	NC_000020.11:g.231 86564_23205868del	GRCh38.p12	First Pass	NC_000020.11	Chr20	23,186,564	23,205,868
essv24803139	Remapped	Perfect	NC_000020.11:g.231 86564_23205868del	GRCh38.p12	First Pass	NC_000020.11	Chr20	23,186,564	23,205,868
essv24803140	Remapped	Perfect	NC_000020.11:g.231 86564_23205868del	GRCh38.p12	First Pass	NC_000020.11	Chr20	23,186,564	23,205,868
essv24803141	Remapped	Perfect	NC_000020.11:g.231 86564_23205868del	GRCh38.p12	First Pass	NC_000020.11	Chr20	23,186,564	23,205,868
essv24803142	Remapped	Perfect	NC_000020.11:g.231 86564_23205868del	GRCh38.p12	First Pass	NC_000020.11	Chr20	23,186,564	23,205,868
essv24803143	Remapped	Perfect	NC_000020.11:g.231 86564_23205868del	GRCh38.p12	First Pass	NC_000020.11	Chr20	23,186,564	23,205,868
essv24803144	Remapped	Perfect	NC_000020.11:g.231 86564_23205868del	GRCh38.p12	First Pass	NC_000020.11	Chr20	23,186,564	23,205,868
essv24803145	Remapped	Perfect	NC_000020.11:g.231 86564_23205868del	GRCh38.p12	First Pass	NC_000020.11	Chr20	23,186,564	23,205,868
essv24803146	Remapped	Perfect	NC_000020.11:g.231 86564_23205868del	GRCh38.p12	First Pass	NC_000020.11	Chr20	23,186,564	23,205,868
essv24803147	Remapped	Perfect	NC_000020.11:g.231 86564_23205868del	GRCh38.p12	First Pass	NC_000020.11	Chr20	23,186,564	23,205,868
essv24803148	Remapped	Perfect	NC_000020.11:g.231 86564_23205868del	GRCh38.p12	First Pass	NC_000020.11	Chr20	23,186,564	23,205,868
essv24803149	Remapped	Perfect	NC_000020.11:g.231 86564_23205868del	GRCh38.p12	First Pass	NC_000020.11	Chr20	23,186,564	23,205,868
essv24803150	Remapped	Perfect	NC_000020.11:g.231 86564_23205868del	GRCh38.p12	First Pass	NC_000020.11	Chr20	23,186,564	23,205,868
essv24803151	Remapped	Perfect	NC_000020.11:g.231 86564_23205868del	GRCh38.p12	First Pass	NC_000020.11	Chr20	23,186,564	23,205,868
essv24803152	Remapped	Perfect	NC_000020.11:g.231 86564_23205868del	GRCh38.p12	First Pass	NC_000020.11	Chr20	23,186,564	23,205,868
essv24803153	Remapped	Perfect	NC_000020.11:g.231 86564_23205868del	GRCh38.p12	First Pass	NC_000020.11	Chr20	23,186,564	23,205,868
essv24803154	Remapped	Perfect	NC_000020.11:g.231 86564_23205868del	GRCh38.p12	First Pass	NC_000020.11	Chr20	23,186,564	23,205,868
essv24803155	Remapped	Perfect	NC_000020.11:g.231 86564_23205868del	GRCh38.p12	First Pass	NC_000020.11	Chr20	23,186,564	23,205,868
essv24803156	Remapped	Perfect	NC_000020.11:g.231 86564_23205868del	GRCh38.p12	First Pass	NC_000020.11	Chr20	23,186,564	23,205,868
essv24803157	Remapped	Perfect	NC_000020.11:g.231 86564_23205868del	GRCh38.p12	First Pass	NC_000020.11	Chr20	23,186,564	23,205,868
essv24803158	Remapped	Perfect	NC_000020.11:g.231 86564_23205868del	GRCh38.p12	First Pass	NC_000020.11	Chr20	23,186,564	23,205,868
essv24803159	Remapped	Perfect	NC_000020.11:g.231 86564_23205868del	GRCh38.p12	First Pass	NC_000020.11	Chr20	23,186,564	23,205,868
essv24803160	Remapped	Perfect	NC_000020.11:g.231 86564_23205868del	GRCh38.p12	First Pass	NC_000020.11	Chr20	23,186,564	23,205,868
essv24803161	Remapped	Perfect	NC_000020.11:g.231 86564_23205868del	GRCh38.p12	First Pass	NC_000020.11	Chr20	23,186,564	23,205,868
essv24803162	Remapped	Perfect	NC_000020.11:g.231 86564_23205868del	GRCh38.p12	First Pass	NC_000020.11	Chr20	23,186,564	23,205,868
essv24803163	Remapped	Perfect	NC_000020.11:g.231 86564_23205868del	GRCh38.p12	First Pass	NC_000020.11	Chr20	23,186,564	23,205,868
essv24803164	Remapped	Perfect	NC_000020.11:g.231 86564_23205868del	GRCh38.p12	First Pass	NC_000020.11	Chr20	23,186,564	23,205,868
essv24803165	Remapped	Perfect	NC_000020.11:g.231 86564_23205868del	GRCh38.p12	First Pass	NC_000020.11	Chr20	23,186,564	23,205,868
essv24803166	Remapped	Perfect	NC_000020.11:g.231 86564_23205868del	GRCh38.p12	First Pass	NC_000020.11	Chr20	23,186,564	23,205,868
essv24803167	Remapped	Perfect	NC_000020.11:g.231 86564_23205868del	GRCh38.p12	First Pass	NC_000020.11	Chr20	23,186,564	23,205,868
essv24803168	Remapped	Perfect	NC_000020.11:g.231 86564_23205868del	GRCh38.p12	First Pass	NC_000020.11	Chr20	23,186,564	23,205,868
essv24803169	Remapped	Perfect	NC_000020.11:g.231 86564_23205868del	GRCh38.p12	First Pass	NC_000020.11	Chr20	23,186,564	23,205,868
essv24803170	Remapped	Perfect	NC_000020.11:g.231 86564_23205868del	GRCh38.p12	First Pass	NC_000020.11	Chr20	23,186,564	23,205,868
essv24803136	Submitted genomic		NC_000020.10:g.231 67201_23186505del	GRCh37 (hg19)		NC_000020.10	Chr20	23,167,201	23,186,505
essv24803137	Submitted genomic		NC_000020.10:g.231 67201_23186505del	GRCh37 (hg19)		NC_000020.10	Chr20	23,167,201	23,186,505
essv24803138	Submitted genomic		NC_000020.10:g.231 67201_23186505del	GRCh37 (hg19)		NC_000020.10	Chr20	23,167,201	23,186,505
essv24803139	Submitted genomic		NC_000020.10:g.231 67201_23186505del	GRCh37 (hg19)		NC_000020.10	Chr20	23,167,201	23,186,505
essv24803140	Submitted genomic		NC_000020.10:g.231 67201_23186505del	GRCh37 (hg19)		NC_000020.10	Chr20	23,167,201	23,186,505
essv24803141	Submitted genomic		NC_000020.10:g.231 67201_23186505del	GRCh37 (hg19)		NC_000020.10	Chr20	23,167,201	23,186,505
essv24803142	Submitted genomic		NC_000020.10:g.231 67201_23186505del	GRCh37 (hg19)		NC_000020.10	Chr20	23,167,201	23,186,505
essv24803143	Submitted genomic		NC_000020.10:g.231 67201_23186505del	GRCh37 (hg19)		NC_000020.10	Chr20	23,167,201	23,186,505
essv24803144	Submitted genomic		NC_000020.10:g.231 67201_23186505del	GRCh37 (hg19)		NC_000020.10	Chr20	23,167,201	23,186,505
essv24803145	Submitted genomic		NC_000020.10:g.231 67201_23186505del	GRCh37 (hg19)		NC_000020.10	Chr20	23,167,201	23,186,505
essv24803146	Submitted genomic		NC_000020.10:g.231 67201_23186505del	GRCh37 (hg19)		NC_000020.10	Chr20	23,167,201	23,186,505
essv24803147	Submitted genomic		NC_000020.10:g.231 67201_23186505del	GRCh37 (hg19)		NC_000020.10	Chr20	23,167,201	23,186,505
essv24803148	Submitted genomic		NC_000020.10:g.231 67201_23186505del	GRCh37 (hg19)		NC_000020.10	Chr20	23,167,201	23,186,505
essv24803149	Submitted genomic		NC_000020.10:g.231 67201_23186505del	GRCh37 (hg19)		NC_000020.10	Chr20	23,167,201	23,186,505
essv24803150	Submitted genomic		NC_000020.10:g.231 67201_23186505del	GRCh37 (hg19)		NC_000020.10	Chr20	23,167,201	23,186,505
essv24803151	Submitted genomic		NC_000020.10:g.231 67201_23186505del	GRCh37 (hg19)		NC_000020.10	Chr20	23,167,201	23,186,505
essv24803152	Submitted genomic		NC_000020.10:g.231 67201_23186505del	GRCh37 (hg19)		NC_000020.10	Chr20	23,167,201	23,186,505
essv24803153	Submitted genomic		NC_000020.10:g.231 67201_23186505del	GRCh37 (hg19)		NC_000020.10	Chr20	23,167,201	23,186,505
essv24803154	Submitted genomic		NC_000020.10:g.231 67201_23186505del	GRCh37 (hg19)		NC_000020.10	Chr20	23,167,201	23,186,505
essv24803155	Submitted genomic		NC_000020.10:g.231 67201_23186505del	GRCh37 (hg19)		NC_000020.10	Chr20	23,167,201	23,186,505
essv24803156	Submitted genomic		NC_000020.10:g.231 67201_23186505del	GRCh37 (hg19)		NC_000020.10	Chr20	23,167,201	23,186,505
essv24803157	Submitted genomic		NC_000020.10:g.231 67201_23186505del	GRCh37 (hg19)		NC_000020.10	Chr20	23,167,201	23,186,505
essv24803158	Submitted genomic		NC_000020.10:g.231 67201_23186505del	GRCh37 (hg19)		NC_000020.10	Chr20	23,167,201	23,186,505
essv24803159	Submitted genomic		NC_000020.10:g.231 67201_23186505del	GRCh37 (hg19)		NC_000020.10	Chr20	23,167,201	23,186,505
essv24803160	Submitted genomic		NC_000020.10:g.231 67201_23186505del	GRCh37 (hg19)		NC_000020.10	Chr20	23,167,201	23,186,505
essv24803161	Submitted genomic		NC_000020.10:g.231 67201_23186505del	GRCh37 (hg19)		NC_000020.10	Chr20	23,167,201	23,186,505
essv24803162	Submitted genomic		NC_000020.10:g.231 67201_23186505del	GRCh37 (hg19)		NC_000020.10	Chr20	23,167,201	23,186,505
essv24803163	Submitted genomic		NC_000020.10:g.231 67201_23186505del	GRCh37 (hg19)		NC_000020.10	Chr20	23,167,201	23,186,505
essv24803164	Submitted genomic		NC_000020.10:g.231 67201_23186505del	GRCh37 (hg19)		NC_000020.10	Chr20	23,167,201	23,186,505
essv24803165	Submitted genomic		NC_000020.10:g.231 67201_23186505del	GRCh37 (hg19)		NC_000020.10	Chr20	23,167,201	23,186,505
essv24803166	Submitted genomic		NC_000020.10:g.231 67201_23186505del	GRCh37 (hg19)		NC_000020.10	Chr20	23,167,201	23,186,505
essv24803167	Submitted genomic		NC_000020.10:g.231 67201_23186505del	GRCh37 (hg19)		NC_000020.10	Chr20	23,167,201	23,186,505
essv24803168	Submitted genomic		NC_000020.10:g.231 67201_23186505del	GRCh37 (hg19)		NC_000020.10	Chr20	23,167,201	23,186,505
essv24803169	Submitted genomic		NC_000020.10:g.231 67201_23186505del	GRCh37 (hg19)		NC_000020.10	Chr20	23,167,201	23,186,505
essv24803170	Submitted genomic		NC_000020.10:g.231 67201_23186505del	GRCh37 (hg19)		NC_000020.10	Chr20	23,167,201	23,186,505

dbVar

Database of genomic structural variation

esv3885103

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.