A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893506



Internal ID19184326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:166481225..166618972hg38UCSC Ensembl
Outerchr2:166481225..166618972hg38UCSC Ensembl
Innerchr2:167337735..167475482hg19UCSC Ensembl
Outerchr2:167337735..167475482hg19UCSC Ensembl
Innerchr2:167045981..167183728hg18UCSC Ensembl
Outerchr2:167045981..167183728hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38137748
hg19137748
hg18137748
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25796468, essv25798372
Samples
Known GenesSCN7A
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893506
Frequency
Sample Size3017
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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