A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3890895



Internal ID18838605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:80076658..80233186hg38UCSC Ensembl
Outerchr6:80076658..80233186hg38UCSC Ensembl
Innerchr6:80786375..80942903hg19UCSC Ensembl
Outerchr6:80786375..80942903hg19UCSC Ensembl
Innerchr6:80843094..80999622hg18UCSC Ensembl
Outerchr6:80843094..80999622hg18UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38156529
hg19156529
hg18156529
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25801175
Samples
Known GenesBCKDHB
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3890895
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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