A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751624



Internal ID12638490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:36045750..36150005hg38UCSC Ensembl
Innerchr17:34372787..34477387hg19UCSC Ensembl
Innerchr17:31396900..31501500hg18UCSC Ensembl
Innerchr17:31396900..31501500hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38104256
hg19104601
hg18104601
hg17104601
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv120e55
Supporting Variantsessv6982157, essv6982158, essv6982159, essv6982160, essv6988498
SamplesBEC_397
Known GenesCCL18, CCL3, CCL4
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)esv2751624
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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