A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790226



Internal ID18821735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:178698920..178955866hg38UCSC Ensembl
Innerchr5:178125921..178382867hg19UCSC Ensembl
Innerchr5:178058527..178315473hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38256947
hg19256947
hg18256947
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890769
Supporting Variants
Samples
Known GenesAACSP1, ZFP2, ZNF354A, ZNF354B, ZNF454
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=85
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790226
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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