A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275402



Internal ID348308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:111964426..111964482hg38UCSC Ensembl
Outerchr9:111959966..111965040hg38UCSC Ensembl
Innerchr9:114726706..114726762hg19UCSC Ensembl
Outerchr9:114722246..114727320hg19UCSC Ensembl
Innerchr9:113766527..113766583hg18UCSC Ensembl
Outerchr9:113762067..113767141hg18UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg385075
hg195075
hg185075
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585385, essv2585932
Samples
Known Genes
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275402
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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