A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275497



Internal ID348403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:43070981..43071338hg38UCSC Ensembl
Outerchr6:43070956..43071667hg38UCSC Ensembl
Innerchr6:43038719..43039076hg19UCSC Ensembl
Outerchr6:43038694..43039405hg19UCSC Ensembl
Innerchr6:43146697..43147054hg18UCSC Ensembl
Outerchr6:43146672..43147383hg18UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38712
hg19712
hg18712
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585703, essv2585114
Samples
Known GenesKLC4
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275497
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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