A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788308



Internal ID18814798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76502756..76978826hg38UCSC Ensembl
Innerchr7:76132073..76608143hg19UCSC Ensembl
Innerchr7:75970009..76446079hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38476071
hg19476071
hg18476071
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891147
Supporting Variants
Samples
Known GenesDTX2, LOC100133091, POMZP3, UPK3B
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=46
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788308
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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