A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791660



Internal ID19177769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:42767972..42981034hg38UCSC Ensembl
Innerchr13:43342108..43555170hg19UCSC Ensembl
Innerchr13:42240108..42453170hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38213063
hg19213063
hg18213063
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892334
Supporting Variants
Samples
Known GenesEPSTI1, FAM216B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=75
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791660
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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