A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585432



Internal ID347011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:55400503..55400777hg38UCSC Ensembl
Outerchr2:55394596..55405097hg38UCSC Ensembl
Innerchr2:55627639..55627913hg19UCSC Ensembl
Outerchr2:55621732..55632233hg19UCSC Ensembl
Innerchr2:55481143..55481417hg18UCSC Ensembl
Outerchr2:55475236..55485737hg18UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3810502
hg1910502
hg1810502
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275364
Supporting Variants
Samples
Known GenesCCDC88A
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585432
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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