A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751627



Internal ID12985179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:36098851..36145077hg38UCSC Ensembl
Innerchr17:34426245..34472462hg19UCSC Ensembl
Innerchr17:31450358..31496575hg18UCSC Ensembl
Innerchr17:31450358..31496575hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3846227
hg1946218
hg1846218
hg1746218
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv121e55
Supporting Variantsessv6982374, essv6982373
SamplesBEC_428
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)esv2751627
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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