A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790075



Internal ID19164689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:80182710..80286650hg38UCSC Ensembl
Innerchr6:80892427..80996367hg19UCSC Ensembl
Innerchr6:80949146..81053086hg18UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38103941
hg19103941
hg18103941
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890894
Supporting Variants
Samples
Known GenesBCKDHB
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=27
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790075
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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