A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788064



Internal ID18826764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:146348182..146767074hg38UCSC Ensembl
Innerchr4:147269334..147688226hg19UCSC Ensembl
Innerchr4:147488784..147907676hg18UCSC Ensembl
Cytoband4q31.22
Allele length
AssemblyAllele length
hg38418893
hg19418893
hg18418893
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3894049
Supporting Variants
Samples
Known GenesMIR7849, POU4F2, SLC10A7, TTC29
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=54
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788064
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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