A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4343n100



Internal ID22790430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:62391262..62569333hg38UCSC Ensembl
chr20:60966318..61166540hg19UCSC Ensembl
chr20:60399713..60576985hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38178072
hg19200223
hg18177273
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1065160, nsv1056262, nsv1063674, nsv1065364, nsv1060968
Samples
Known GenesC20orf166, C20orf166-AS1, CABLES2, GATA5, MIR1-1, MIR133A2, RBBP8NL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4343n100
Frequency
Sample Size11257
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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