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dbVar

Database of genomic structural variation

esv3599607

Organism: Homo sapiens

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

Variant Calls:4
Validation:Not tested
Clinical Assertions: No
Region Size:12,522

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 55 studies. See in: genome view

Remapped(Score: Perfect):10,190,943-10,203,470

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3599607	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	10,190,946 (-3, +3)	10,203,467 (-3, +3)
esv3599607	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	10,192,570 (-3, +3)	10,205,091 (-3, +3)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv11352484	deletion	SAMN00006402	Sequencing	Read depth and paired-end mapping	Heterozygous	2,495
essv11352485	deletion	SAMN00006415	Sequencing	Read depth and paired-end mapping	Heterozygous	2,782
essv11352486	deletion	SAMN00249865	Sequencing	Read depth and paired-end mapping	Heterozygous	2,671
essv11352487	deletion	SAMN00801680	Sequencing	Read depth and paired-end mapping	Heterozygous	2,942

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv11352484	Remapped	Perfect	NC_000004.12:g.(10 190943_10190949)_( 10203464_10203470) del	GRCh38.p12	First Pass	NC_000004.12	Chr4	10,190,946 (-3, +3)	10,203,467 (-3, +3)
essv11352485	Remapped	Perfect	NC_000004.12:g.(10 190943_10190949)_( 10203464_10203470) del	GRCh38.p12	First Pass	NC_000004.12	Chr4	10,190,946 (-3, +3)	10,203,467 (-3, +3)
essv11352486	Remapped	Perfect	NC_000004.12:g.(10 190943_10190949)_( 10203464_10203470) del	GRCh38.p12	First Pass	NC_000004.12	Chr4	10,190,946 (-3, +3)	10,203,467 (-3, +3)
essv11352487	Remapped	Perfect	NC_000004.12:g.(10 190943_10190949)_( 10203464_10203470) del	GRCh38.p12	First Pass	NC_000004.12	Chr4	10,190,946 (-3, +3)	10,203,467 (-3, +3)
essv11352484	Submitted genomic		NC_000004.11:g.(10 192567_10192573)_( 10205088_10205094) del	GRCh37 (hg19)		NC_000004.11	Chr4	10,192,570 (-3, +3)	10,205,091 (-3, +3)
essv11352485	Submitted genomic		NC_000004.11:g.(10 192567_10192573)_( 10205088_10205094) del	GRCh37 (hg19)		NC_000004.11	Chr4	10,192,570 (-3, +3)	10,205,091 (-3, +3)
essv11352486	Submitted genomic		NC_000004.11:g.(10 192567_10192573)_( 10205088_10205094) del	GRCh37 (hg19)		NC_000004.11	Chr4	10,192,570 (-3, +3)	10,205,091 (-3, +3)
essv11352487	Submitted genomic		NC_000004.11:g.(10 192567_10192573)_( 10205088_10205094) del	GRCh37 (hg19)		NC_000004.11	Chr4	10,192,570 (-3, +3)	10,205,091 (-3, +3)

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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