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dbVar

Database of genomic structural variation

esv3851429

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:6
Validation:Not tested
Clinical Assertions: No
Region Size:11,861

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: 159 SVs from 35 studies. See in: genome view

Remapped(Score: Perfect):132,661,467-132,674,327

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3851429	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	132,661,967 (-500, +0)	132,673,827 (-0, +500)
esv3851429	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	132,346,726 (-500, +0)	132,358,586 (-0, +500)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv20884708	deletion	HG00641	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,216
essv20884709	deletion	HG01077	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	2,787
essv20884710	deletion	HG01102	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,144
essv20884711	deletion	HG01286	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,249
essv20884712	deletion	HG02090	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,448
essv20884713	deletion	HG02561	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,067

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv20884708	Remapped	Perfect	NC_000007.14:g.(13 2661467_132661967) _(132673827_132674 327)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	132,661,967 (-500, +0)	132,673,827 (-0, +500)
essv20884709	Remapped	Perfect	NC_000007.14:g.(13 2661467_132661967) _(132673827_132674 327)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	132,661,967 (-500, +0)	132,673,827 (-0, +500)
essv20884710	Remapped	Perfect	NC_000007.14:g.(13 2661467_132661967) _(132673827_132674 327)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	132,661,967 (-500, +0)	132,673,827 (-0, +500)
essv20884711	Remapped	Perfect	NC_000007.14:g.(13 2661467_132661967) _(132673827_132674 327)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	132,661,967 (-500, +0)	132,673,827 (-0, +500)
essv20884712	Remapped	Perfect	NC_000007.14:g.(13 2661467_132661967) _(132673827_132674 327)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	132,661,967 (-500, +0)	132,673,827 (-0, +500)
essv20884713	Remapped	Perfect	NC_000007.14:g.(13 2661467_132661967) _(132673827_132674 327)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	132,661,967 (-500, +0)	132,673,827 (-0, +500)
essv20884708	Submitted genomic		NC_000007.13:g.(13 2346226_132346726) _(132358586_132359 086)del	GRCh37 (hg19)		NC_000007.13	Chr7	132,346,726 (-500, +0)	132,358,586 (-0, +500)
essv20884709	Submitted genomic		NC_000007.13:g.(13 2346226_132346726) _(132358586_132359 086)del	GRCh37 (hg19)		NC_000007.13	Chr7	132,346,726 (-500, +0)	132,358,586 (-0, +500)
essv20884710	Submitted genomic		NC_000007.13:g.(13 2346226_132346726) _(132358586_132359 086)del	GRCh37 (hg19)		NC_000007.13	Chr7	132,346,726 (-500, +0)	132,358,586 (-0, +500)
essv20884711	Submitted genomic		NC_000007.13:g.(13 2346226_132346726) _(132358586_132359 086)del	GRCh37 (hg19)		NC_000007.13	Chr7	132,346,726 (-500, +0)	132,358,586 (-0, +500)
essv20884712	Submitted genomic		NC_000007.13:g.(13 2346226_132346726) _(132358586_132359 086)del	GRCh37 (hg19)		NC_000007.13	Chr7	132,346,726 (-500, +0)	132,358,586 (-0, +500)
essv20884713	Submitted genomic		NC_000007.13:g.(13 2346226_132346726) _(132358586_132359 086)del	GRCh37 (hg19)		NC_000007.13	Chr7	132,346,726 (-500, +0)	132,358,586 (-0, +500)

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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