A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979846



Internal ID12634152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:38311284..38446043hg38UCSC Ensembl
Innerchr20:36939686..37074686hg19UCSC Ensembl
Innerchr20:36373100..36508100hg18UCSC Ensembl
Innerchr20:36373100..36508100hg17UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38134760
hg19135001
hg18135001
hg17135001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35121
Supporting Variants
SamplesNA18852
Known GenesBPI, LBP, SNHG17, SNORA71A, SNORA71B, SNORA71C, SNORA71D
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979846
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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