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dbVar

Database of genomic structural variation

esv3841662

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:3
Validation:Not tested
Clinical Assertions: No
Region Size:45,209

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: 248 SVs from 41 studies. See in: genome view

Remapped(Score: Perfect):112,102,348-112,148,556

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3841662	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	112,102,848 (-500, +0)	112,148,056 (-0, +500)
esv3841662	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	111,438,545 (-500, +0)	111,483,753 (-0, +500)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv19692059	deletion	HG01187	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,727
essv19692060	deletion	HG02262	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,572
essv19692061	deletion	NA18534	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,434

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv19692059	Remapped	Perfect	NC_000005.10:g.(11 2102348_112102848) _(112148056_112148 556)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	112,102,848 (-500, +0)	112,148,056 (-0, +500)
essv19692060	Remapped	Perfect	NC_000005.10:g.(11 2102348_112102848) _(112148056_112148 556)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	112,102,848 (-500, +0)	112,148,056 (-0, +500)
essv19692061	Remapped	Perfect	NC_000005.10:g.(11 2102348_112102848) _(112148056_112148 556)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	112,102,848 (-500, +0)	112,148,056 (-0, +500)
essv19692059	Submitted genomic		NC_000005.9:g.(111 438045_111438545)_ (111483753_1114842 53)del	GRCh37 (hg19)		NC_000005.9	Chr5	111,438,545 (-500, +0)	111,483,753 (-0, +500)
essv19692060	Submitted genomic		NC_000005.9:g.(111 438045_111438545)_ (111483753_1114842 53)del	GRCh37 (hg19)		NC_000005.9	Chr5	111,438,545 (-500, +0)	111,483,753 (-0, +500)
essv19692061	Submitted genomic		NC_000005.9:g.(111 438045_111438545)_ (111483753_1114842 53)del	GRCh37 (hg19)		NC_000005.9	Chr5	111,438,545 (-500, +0)	111,483,753 (-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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