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dbVar

Database of genomic structural variation

esv3877929

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:5
Validation:Not tested
Clinical Assertions: No
Region Size:18,682

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: 270 SVs from 44 studies. See in: genome view

Remapped(Score: Perfect):72,537,565-72,556,251

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3877929	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	72,537,567 (-2, +3)	72,556,248 (-2, +3)
esv3877929	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	72,571,466 (-2, +3)	72,590,147 (-2, +3)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv24046333	deletion	HG00173	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,003
essv24046334	deletion	HG00182	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,506
essv24046335	deletion	HG00186	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,391
essv24046336	deletion	HG00272	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,040
essv24046337	deletion	HG00379	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,279

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv24046333	Remapped	Perfect	NC_000016.10:g.(72 537565_72537570)_( 72556246_72556251) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	72,537,567 (-2, +3)	72,556,248 (-2, +3)
essv24046334	Remapped	Perfect	NC_000016.10:g.(72 537565_72537570)_( 72556246_72556251) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	72,537,567 (-2, +3)	72,556,248 (-2, +3)
essv24046335	Remapped	Perfect	NC_000016.10:g.(72 537565_72537570)_( 72556246_72556251) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	72,537,567 (-2, +3)	72,556,248 (-2, +3)
essv24046336	Remapped	Perfect	NC_000016.10:g.(72 537565_72537570)_( 72556246_72556251) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	72,537,567 (-2, +3)	72,556,248 (-2, +3)
essv24046337	Remapped	Perfect	NC_000016.10:g.(72 537565_72537570)_( 72556246_72556251) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	72,537,567 (-2, +3)	72,556,248 (-2, +3)
essv24046333	Submitted genomic		NC_000016.9:g.(725 71464_72571469)_(7 2590145_72590150)d el	GRCh37 (hg19)		NC_000016.9	Chr16	72,571,466 (-2, +3)	72,590,147 (-2, +3)
essv24046334	Submitted genomic		NC_000016.9:g.(725 71464_72571469)_(7 2590145_72590150)d el	GRCh37 (hg19)		NC_000016.9	Chr16	72,571,466 (-2, +3)	72,590,147 (-2, +3)
essv24046335	Submitted genomic		NC_000016.9:g.(725 71464_72571469)_(7 2590145_72590150)d el	GRCh37 (hg19)		NC_000016.9	Chr16	72,571,466 (-2, +3)	72,590,147 (-2, +3)
essv24046336	Submitted genomic		NC_000016.9:g.(725 71464_72571469)_(7 2590145_72590150)d el	GRCh37 (hg19)		NC_000016.9	Chr16	72,571,466 (-2, +3)	72,590,147 (-2, +3)
essv24046337	Submitted genomic		NC_000016.9:g.(725 71464_72571469)_(7 2590145_72590150)d el	GRCh37 (hg19)		NC_000016.9	Chr16	72,571,466 (-2, +3)	72,590,147 (-2, +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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