A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25780775



Internal ID18835805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:43420155..43603151hg38UCSC Ensembl
Innerchr13:43994291..44177287hg19UCSC Ensembl
Innerchr13:42892291..43075287hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38182997
hg19182997
hg18182997
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892336
Supporting Variants
Samples
Known GenesENOX1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=46
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25780775
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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