A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790273



Internal ID18832741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:86031332..87194476hg38UCSC Ensembl
Innerchr5:85327150..86490293hg19UCSC Ensembl
Innerchr5:85362906..86526049hg18UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg381163145
hg191163144
hg181163144
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890667
Supporting Variants
Samples
Known GenesCOX7C, LOC100505878, LOC101929380, MIR3607, MIR4280, NBPF22P
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=192
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790273
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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