A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593436



Internal ID6980760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:176009248..176015254hg38UCSC Ensembl
Innerchr2:176009290..176015213hg38UCSC Ensembl
Outerchr2:176009207..176015296hg38UCSC Ensembl
chr2:176873976..176879982hg19UCSC Ensembl
Innerchr2:176874018..176879941hg19UCSC Ensembl
Outerchr2:176873935..176880024hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg386007
hg196007
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10766533
SamplesNA12058
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593436
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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