esv3611488

Organism: Homo sapiens

Study:estd214 (1000 Genomes Consortium Phase 3)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:19
Validation:Not tested
Clinical Assertions: No
Region Size:17,290

Publication(s):1000 Genomes Project Consortium et al. 2015

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: 496 SVs from 67 studies. See in: genome view

Remapped(Score: Perfect):162,073,390-162,090,679

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3611488	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	162,073,390	162,090,679
esv3611488	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	162,494,422	162,511,711

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv12620214	deletion	SAMN00779972	Sequencing	Read depth and paired-end mapping	Heterozygous	3,233
essv12620215	deletion	SAMN00779987	Sequencing	Read depth and paired-end mapping	Heterozygous	3,263
essv12620216	deletion	SAMN01036764	Sequencing	Read depth and paired-end mapping	Heterozygous	2,922
essv12620217	deletion	SAMN01036795	Sequencing	Read depth and paired-end mapping	Heterozygous	3,333
essv12620218	deletion	SAMN01036803	Sequencing	Read depth and paired-end mapping	Heterozygous	3,095
essv12620219	deletion	SAMN01090895	Sequencing	Read depth and paired-end mapping	Heterozygous	3,051
essv12620220	deletion	SAMN01036758	Sequencing	Read depth and paired-end mapping	Heterozygous	2,993
essv12620221	deletion	SAMN01036791	Sequencing	Read depth and paired-end mapping	Heterozygous	3,202
essv12620222	deletion	SAMN01761350	Sequencing	Read depth and paired-end mapping	Heterozygous	2,677
essv12620223	deletion	SAMN01091008	Sequencing	Read depth and paired-end mapping	Heterozygous	2,757
essv12620224	deletion	SAMN00001590	Sequencing	Read depth and paired-end mapping	Heterozygous	3,076
essv12620225	deletion	SAMN00001019	Sequencing	Read depth and paired-end mapping	Heterozygous	3,288
essv12620226	deletion	SAMN00001665	Sequencing	Read depth and paired-end mapping	Heterozygous	3,380
essv12620227	deletion	SAMN00000550	Sequencing	Read depth and paired-end mapping	Heterozygous	3,070
essv12620228	deletion	SAMN00001683	Sequencing	Read depth and paired-end mapping	Heterozygous	2,908
essv12620229	deletion	SAMN00001688	Sequencing	Read depth and paired-end mapping	Heterozygous	3,391
essv12620230	deletion	SAMN00000570	Sequencing	Read depth and paired-end mapping	Heterozygous	2,486
essv12620231	deletion	SAMN00001693	Sequencing	Read depth and paired-end mapping	Heterozygous	3,331
essv12620232	deletion	SAMN00001185	Sequencing	Read depth and paired-end mapping	Heterozygous	3,140

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv12620214	Remapped	Perfect	NC_000006.12:g.162 073390_162090679de l	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,073,390	162,090,679
essv12620215	Remapped	Perfect	NC_000006.12:g.162 073390_162090679de l	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,073,390	162,090,679
essv12620216	Remapped	Perfect	NC_000006.12:g.162 073390_162090679de l	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,073,390	162,090,679
essv12620217	Remapped	Perfect	NC_000006.12:g.162 073390_162090679de l	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,073,390	162,090,679
essv12620218	Remapped	Perfect	NC_000006.12:g.162 073390_162090679de l	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,073,390	162,090,679
essv12620219	Remapped	Perfect	NC_000006.12:g.162 073390_162090679de l	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,073,390	162,090,679
essv12620220	Remapped	Perfect	NC_000006.12:g.162 073390_162090679de l	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,073,390	162,090,679
essv12620221	Remapped	Perfect	NC_000006.12:g.162 073390_162090679de l	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,073,390	162,090,679
essv12620222	Remapped	Perfect	NC_000006.12:g.162 073390_162090679de l	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,073,390	162,090,679
essv12620223	Remapped	Perfect	NC_000006.12:g.162 073390_162090679de l	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,073,390	162,090,679
essv12620224	Remapped	Perfect	NC_000006.12:g.162 073390_162090679de l	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,073,390	162,090,679
essv12620225	Remapped	Perfect	NC_000006.12:g.162 073390_162090679de l	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,073,390	162,090,679
essv12620226	Remapped	Perfect	NC_000006.12:g.162 073390_162090679de l	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,073,390	162,090,679
essv12620227	Remapped	Perfect	NC_000006.12:g.162 073390_162090679de l	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,073,390	162,090,679
essv12620228	Remapped	Perfect	NC_000006.12:g.162 073390_162090679de l	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,073,390	162,090,679
essv12620229	Remapped	Perfect	NC_000006.12:g.162 073390_162090679de l	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,073,390	162,090,679
essv12620230	Remapped	Perfect	NC_000006.12:g.162 073390_162090679de l	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,073,390	162,090,679
essv12620231	Remapped	Perfect	NC_000006.12:g.162 073390_162090679de l	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,073,390	162,090,679
essv12620232	Remapped	Perfect	NC_000006.12:g.162 073390_162090679de l	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,073,390	162,090,679
essv12620214	Submitted genomic		NC_000006.11:g.162 494422_162511711de l	GRCh37 (hg19)		NC_000006.11	Chr6	162,494,422	162,511,711
essv12620215	Submitted genomic		NC_000006.11:g.162 494422_162511711de l	GRCh37 (hg19)		NC_000006.11	Chr6	162,494,422	162,511,711
essv12620216	Submitted genomic		NC_000006.11:g.162 494422_162511711de l	GRCh37 (hg19)		NC_000006.11	Chr6	162,494,422	162,511,711
essv12620217	Submitted genomic		NC_000006.11:g.162 494422_162511711de l	GRCh37 (hg19)		NC_000006.11	Chr6	162,494,422	162,511,711
essv12620218	Submitted genomic		NC_000006.11:g.162 494422_162511711de l	GRCh37 (hg19)		NC_000006.11	Chr6	162,494,422	162,511,711
essv12620219	Submitted genomic		NC_000006.11:g.162 494422_162511711de l	GRCh37 (hg19)		NC_000006.11	Chr6	162,494,422	162,511,711
essv12620220	Submitted genomic		NC_000006.11:g.162 494422_162511711de l	GRCh37 (hg19)		NC_000006.11	Chr6	162,494,422	162,511,711
essv12620221	Submitted genomic		NC_000006.11:g.162 494422_162511711de l	GRCh37 (hg19)		NC_000006.11	Chr6	162,494,422	162,511,711
essv12620222	Submitted genomic		NC_000006.11:g.162 494422_162511711de l	GRCh37 (hg19)		NC_000006.11	Chr6	162,494,422	162,511,711
essv12620223	Submitted genomic		NC_000006.11:g.162 494422_162511711de l	GRCh37 (hg19)		NC_000006.11	Chr6	162,494,422	162,511,711
essv12620224	Submitted genomic		NC_000006.11:g.162 494422_162511711de l	GRCh37 (hg19)		NC_000006.11	Chr6	162,494,422	162,511,711
essv12620225	Submitted genomic		NC_000006.11:g.162 494422_162511711de l	GRCh37 (hg19)		NC_000006.11	Chr6	162,494,422	162,511,711
essv12620226	Submitted genomic		NC_000006.11:g.162 494422_162511711de l	GRCh37 (hg19)		NC_000006.11	Chr6	162,494,422	162,511,711
essv12620227	Submitted genomic		NC_000006.11:g.162 494422_162511711de l	GRCh37 (hg19)		NC_000006.11	Chr6	162,494,422	162,511,711
essv12620228	Submitted genomic		NC_000006.11:g.162 494422_162511711de l	GRCh37 (hg19)		NC_000006.11	Chr6	162,494,422	162,511,711
essv12620229	Submitted genomic		NC_000006.11:g.162 494422_162511711de l	GRCh37 (hg19)		NC_000006.11	Chr6	162,494,422	162,511,711
essv12620230	Submitted genomic		NC_000006.11:g.162 494422_162511711de l	GRCh37 (hg19)		NC_000006.11	Chr6	162,494,422	162,511,711
essv12620231	Submitted genomic		NC_000006.11:g.162 494422_162511711de l	GRCh37 (hg19)		NC_000006.11	Chr6	162,494,422	162,511,711
essv12620232	Submitted genomic		NC_000006.11:g.162 494422_162511711de l	GRCh37 (hg19)		NC_000006.11	Chr6	162,494,422	162,511,711

dbVar

Database of genomic structural variation

esv3611488

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.