A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751631



Internal ID12985183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:36098851..36150004hg38UCSC Ensembl
Innerchr17:34426245..34477386hg19UCSC Ensembl
Innerchr17:31450358..31501499hg18UCSC Ensembl
Innerchr17:31450358..31501499hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3851154
hg1951142
hg1851142
hg1751142
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv121e55
Supporting Variantsessv6978921, essv6978920
SamplesNA12762
Known GenesCCL4
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)esv2751631
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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