A curated catalogue of human genomic structural variation




Variant Details

Variant: esv35121



Internal ID12644471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:38305228..38453502hg38UCSC Ensembl
Innerchr20:36933630..37082145hg19UCSC Ensembl
Innerchr20:36367044..36515559hg18UCSC Ensembl
Innerchr20:36367044..36515559hg17UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38148275
hg19148516
hg18148516
hg17148516
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6986961, essv6979846, essv6979845
SamplesNA18852
Known GenesBPI, LBP, SNHG11, SNHG17, SNORA39, SNORA60, SNORA71A, SNORA71B, SNORA71C, SNORA71D
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)esv35121
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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