A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3890878



Internal ID19185180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:72753878..72760709hg38UCSC Ensembl
Outerchr6:72750039..72763191hg38UCSC Ensembl
Innerchr6:73463601..73470432hg19UCSC Ensembl
Outerchr6:73459762..73472914hg19UCSC Ensembl
Innerchr6:73520322..73527153hg18UCSC Ensembl
Outerchr6:73516483..73529635hg18UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3813153
hg1913153
hg1813153
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25801107, essv25783388, essv25800008, essv25785296, essv25780697
Samples
Known GenesKCNQ5
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3890878
Frequency
Sample Size3017
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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