A curated catalogue of human genomic structural variation




Variant Details

Variant: esv35098



Internal ID12644448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:160001557..160649838hg38UCSC Ensembl
Innerchr6:160422589..161070870hg19UCSC Ensembl
Innerchr6:160342579..160990860hg18UCSC Ensembl
Innerchr6:160393000..161041281hg17UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg38648282
hg19648282
hg18648282
hg17648282
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6980106, essv6980105, essv6987004, essv6987005, essv6990444
SamplesNA18953
Known GenesAIRN, IGF2R, LOC729603, LPA, LPAL2, SLC22A1, SLC22A2, SLC22A3
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)esv35098
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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