A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751911



Internal ID12985463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:18269233..18315856hg38UCSC Ensembl
Innerchr20:18249877..18296500hg19UCSC Ensembl
Innerchr20:18197877..18244500hg18UCSC Ensembl
Innerchr20:18197877..18244500hg17UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg3846624
hg1946624
hg1846624
hg1746624
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6983597, essv6983598
SamplesBEC_671
Known GenesZNF133
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751911
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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