A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25801175



Internal ID18827391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:80076658..80233186hg38UCSC Ensembl
Innerchr6:80786375..80942903hg19UCSC Ensembl
Innerchr6:80843094..80999622hg18UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38156529
hg19156529
hg18156529
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890895
Supporting Variants
Samples
Known GenesBCKDHB
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=27
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25801175
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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