A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25798072



Internal ID18830558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:65586109..65714937hg38UCSC Ensembl
Innerchr5:64881936..65010764hg19UCSC Ensembl
Innerchr5:64917692..65046520hg18UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38128829
hg19128829
hg18128829
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3894204
Supporting Variants
Samples
Known GenesPPWD1, SGTB, TRAPPC13, TRIM23
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=22
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25798072
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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