A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3890769



Internal ID18838385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:178698920..178955866hg38UCSC Ensembl
Outerchr5:178698920..178955866hg38UCSC Ensembl
Innerchr5:178125921..178382867hg19UCSC Ensembl
Outerchr5:178125921..178382867hg19UCSC Ensembl
Innerchr5:178058527..178315473hg18UCSC Ensembl
Outerchr5:178058527..178315473hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38256947
hg19256947
hg18256947
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25790226
Samples
Known GenesAACSP1, ZFP2, ZNF354A, ZNF354B, ZNF454
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3890769
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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