A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751917



Internal ID12638783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:51052156..51598401hg38UCSC Ensembl
Innerchr20:49668693..50214940hg19UCSC Ensembl
Innerchr20:49102100..49648347hg18UCSC Ensembl
Innerchr20:49102100..49648347hg17UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38546246
hg19546248
hg18546248
hg17546248
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6982822, essv6988589, essv6982820, essv6982821, essv6986273
SamplesBEC_601
Known GenesATP9A, MIR3194, NFATC2
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)esv2751917
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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