A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25781598



Internal ID18813118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:64517204..65033535hg38UCSC Ensembl
Innerchr6:65227097..65743428hg19UCSC Ensembl
Innerchr6:65283818..65800149hg18UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg38516332
hg19516332
hg18516332
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890865
Supporting Variants
Samples
Known GenesEYS
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=93
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25781598
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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