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dbVar

Database of genomic structural variation

esv3611578

Organism: Homo sapiens

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

Variant Calls:6
Validation:Not tested
Clinical Assertions: No
Region Size:25,178

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: 259 SVs from 40 studies. See in: genome view

Remapped(Score: Perfect):163,497,717-163,522,947

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3611578	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	163,497,743 (-26, +27)	163,522,920 (-26, +27)
esv3611578	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	163,918,775 (-26, +27)	163,943,952 (-26, +27)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv12625311	deletion	SAMN00006427	Sequencing	Read depth and paired-end mapping	Heterozygous	2,683
essv12625312	deletion	SAMN00014409	Sequencing	Read depth and paired-end mapping	Heterozygous	2,635
essv12625313	deletion	SAMN00016854	Sequencing	Read depth and paired-end mapping	Heterozygous	2,755
essv12625314	deletion	SAMN00249884	Sequencing	Read depth and paired-end mapping	Heterozygous	2,705
essv12625315	deletion	SAMN00249883	Sequencing	Read depth and paired-end mapping	Heterozygous	2,807
essv12625316	deletion	SAMN00001308	Sequencing	Read depth and paired-end mapping	Heterozygous	2,852

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv12625311	Remapped	Perfect	NC_000006.12:g.(16 3497717_163497770) _(163522894_163522 947)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	163,497,743 (-26, +27)	163,522,920 (-26, +27)
essv12625312	Remapped	Perfect	NC_000006.12:g.(16 3497717_163497770) _(163522894_163522 947)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	163,497,743 (-26, +27)	163,522,920 (-26, +27)
essv12625313	Remapped	Perfect	NC_000006.12:g.(16 3497717_163497770) _(163522894_163522 947)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	163,497,743 (-26, +27)	163,522,920 (-26, +27)
essv12625314	Remapped	Perfect	NC_000006.12:g.(16 3497717_163497770) _(163522894_163522 947)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	163,497,743 (-26, +27)	163,522,920 (-26, +27)
essv12625315	Remapped	Perfect	NC_000006.12:g.(16 3497717_163497770) _(163522894_163522 947)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	163,497,743 (-26, +27)	163,522,920 (-26, +27)
essv12625316	Remapped	Perfect	NC_000006.12:g.(16 3497717_163497770) _(163522894_163522 947)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	163,497,743 (-26, +27)	163,522,920 (-26, +27)
essv12625311	Submitted genomic		NC_000006.11:g.(16 3918749_163918802) _(163943926_163943 979)del	GRCh37 (hg19)		NC_000006.11	Chr6	163,918,775 (-26, +27)	163,943,952 (-26, +27)
essv12625312	Submitted genomic		NC_000006.11:g.(16 3918749_163918802) _(163943926_163943 979)del	GRCh37 (hg19)		NC_000006.11	Chr6	163,918,775 (-26, +27)	163,943,952 (-26, +27)
essv12625313	Submitted genomic		NC_000006.11:g.(16 3918749_163918802) _(163943926_163943 979)del	GRCh37 (hg19)		NC_000006.11	Chr6	163,918,775 (-26, +27)	163,943,952 (-26, +27)
essv12625314	Submitted genomic		NC_000006.11:g.(16 3918749_163918802) _(163943926_163943 979)del	GRCh37 (hg19)		NC_000006.11	Chr6	163,918,775 (-26, +27)	163,943,952 (-26, +27)
essv12625315	Submitted genomic		NC_000006.11:g.(16 3918749_163918802) _(163943926_163943 979)del	GRCh37 (hg19)		NC_000006.11	Chr6	163,918,775 (-26, +27)	163,943,952 (-26, +27)
essv12625316	Submitted genomic		NC_000006.11:g.(16 3918749_163918802) _(163943926_163943 979)del	GRCh37 (hg19)		NC_000006.11	Chr6	163,918,775 (-26, +27)	163,943,952 (-26, +27)

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.

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