A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25781595



Internal ID19182783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:61850824..62065970hg38UCSC Ensembl
Innerchr6:62560729..62775875hg19UCSC Ensembl
Innerchr6:62618688..62833834hg18UCSC Ensembl
Cytoband6q11.1
Allele length
AssemblyAllele length
hg38215147
hg19215147
hg18215147
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890861
Supporting Variants
Samples
Known GenesKHDRBS2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=45
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25781595
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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