A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3890894



Internal ID19185290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:80182710..80286650hg38UCSC Ensembl
Outerchr6:80182710..80286650hg38UCSC Ensembl
Innerchr6:80892427..80996367hg19UCSC Ensembl
Outerchr6:80892427..80996367hg19UCSC Ensembl
Innerchr6:80949146..81053086hg18UCSC Ensembl
Outerchr6:80949146..81053086hg18UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38103941
hg19103941
hg18103941
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25790075, essv25790743
Samples
Known GenesBCKDHB
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3890894
Frequency
Sample Size3017
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer