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dbVar

Database of genomic structural variation

esv3601407

Organism: Homo sapiens

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

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:15,440

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: 448 SVs from 69 studies. See in: genome view

Remapped(Score: Perfect):92,641,575-92,657,629

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3601407	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	92,641,809 (-234, +0)	92,657,248 (-0, +381)
esv3601407	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	93,562,960 (-234, +0)	93,578,399 (-0, +381)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv11537404	deletion	SAMN00006364	Sequencing	Read depth and paired-end mapping	Heterozygous	2,776
essv11537405	deletion	SAMN00006549	Sequencing	Read depth and paired-end mapping	Heterozygous	2,738
essv11537406	deletion	SAMN00006585	Sequencing	Read depth and paired-end mapping	Heterozygous	2,864

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv11537404	Remapped	Perfect	NC_000004.12:g.(92 641575_92641809)_( 92657248_92657629) del	GRCh38.p12	First Pass	NC_000004.12	Chr4	92,641,809 (-234, +0)	92,657,248 (-0, +381)
essv11537405	Remapped	Perfect	NC_000004.12:g.(92 641575_92641809)_( 92657248_92657629) del	GRCh38.p12	First Pass	NC_000004.12	Chr4	92,641,809 (-234, +0)	92,657,248 (-0, +381)
essv11537406	Remapped	Perfect	NC_000004.12:g.(92 641575_92641809)_( 92657248_92657629) del	GRCh38.p12	First Pass	NC_000004.12	Chr4	92,641,809 (-234, +0)	92,657,248 (-0, +381)
essv11537404	Submitted genomic		NC_000004.11:g.(93 562726_93562960)_( 93578399_93578780) del	GRCh37 (hg19)		NC_000004.11	Chr4	93,562,960 (-234, +0)	93,578,399 (-0, +381)
essv11537405	Submitted genomic		NC_000004.11:g.(93 562726_93562960)_( 93578399_93578780) del	GRCh37 (hg19)		NC_000004.11	Chr4	93,562,960 (-234, +0)	93,578,399 (-0, +381)
essv11537406	Submitted genomic		NC_000004.11:g.(93 562726_93562960)_( 93578399_93578780) del	GRCh37 (hg19)		NC_000004.11	Chr4	93,562,960 (-234, +0)	93,578,399 (-0, +381)

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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