A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752091



Internal ID12638957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:161171068..161434753hg38UCSC Ensembl
Innerchr6:161592100..161855785hg19UCSC Ensembl
Innerchr6:161512090..161775775hg18UCSC Ensembl
Innerchr6:161562511..161826196hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38263686
hg19263686
hg18263686
hg17263686
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6983744, essv6983743, essv6986498, essv6986497, essv6988707, essv6983745
SamplesBEC_620
Known GenesAGPAT4, PARK2
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)esv2752091
Frequency
Sample Size771
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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