A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34577



Internal ID12643928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45393394..45582609hg38UCSC Ensembl
Innerchr17:43470760..43659975hg19UCSC Ensembl
Innerchr17:40826543..41015758hg18UCSC Ensembl
Innerchr17:40826543..41015758hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38189216
hg19189216
hg18189216
hg17189216
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv123e55
Supporting Variantsessv6979195, essv6989073
SamplesNA18505
Known GenesARHGAP27, LRRC37A4P, 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)esv34577
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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