A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25798993



Internal ID19175337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:59818072..59918371hg38UCSC Ensembl
Innerchr13:60392206..60492505hg19UCSC Ensembl
Innerchr13:59290207..59390506hg18UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg38100300
hg19100300
hg18100300
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892362
Supporting Variants
Samples
Known GenesDIAPH3
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=22
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25798993
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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