A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34924



Internal ID12644274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45464290..45582609hg38UCSC Ensembl
Innerchr17:43541656..43659975hg19UCSC Ensembl
Innerchr17:40897439..41015758hg18UCSC Ensembl
Innerchr17:40897439..41015758hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38118320
hg19118320
hg18118320
hg17118320
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv124e55
Supporting Variantsessv6987307, essv6978013
SamplesNA10857
Known GenesLRRC37A4P, MIR4315-1, MIR4315-2, PLEKHM1
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)esv34924
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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