A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10758163



Internal ID4740636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:171949408..171950682hg38UCSC Ensembl
Innerchr2:171949458..171950632hg38UCSC Ensembl
Outerchr2:171949336..171950754hg38UCSC Ensembl
chr2:172805928..172807201hg19UCSC Ensembl
Innerchr2:172805978..172807151hg19UCSC Ensembl
Outerchr2:172805856..172807273hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg381275
hg191274
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593352
Supporting Variants
SamplesNA07048
Known GenesHAT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10758163
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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