A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275352



Internal ID348258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:148443317..148443904hg38UCSC Ensembl
Outerchr6:148440467..148446700hg38UCSC Ensembl
Innerchr6:148764453..148765040hg19UCSC Ensembl
Outerchr6:148761603..148767836hg19UCSC Ensembl
Innerchr6:148806146..148806733hg18UCSC Ensembl
Outerchr6:148803296..148809529hg18UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg386234
hg196234
hg186234
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585609
Samples
Known GenesSASH1
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275352
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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