A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34708



Internal ID12644058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110076984..110223048hg38UCSC Ensembl
Innerchr2:110834561..110980625hg19UCSC Ensembl
Innerchr2:110191850..110337914hg18UCSC Ensembl
Innerchr2:110191936..110338000hg17UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38146065
hg19146065
hg18146065
hg17146065
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv154e55
Supporting Variantsessv6979452, essv6979451, essv6988177, essv6979453
SamplesNA18558
Known GenesLINC00116, MALL, MIR4436B1, MIR4436B2, NPHP1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34708
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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