A curated catalogue of human genomic structural variation




Variant Details

Variant: esv35108



Internal ID12991144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:36098893..36145102hg38UCSC Ensembl
Innerchr17:34426287..34472487hg19UCSC Ensembl
Innerchr17:31450400..31496600hg18UCSC Ensembl
Innerchr17:31450400..31496600hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3846210
hg1946201
hg1846201
hg1746201
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv121e55
Supporting Variantsessv6979866, essv6990417, essv6979867
SamplesNA18854
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)esv35108
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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