A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3890667



Internal ID18838065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:86031332..87194476hg38UCSC Ensembl
Outerchr5:86031332..87194476hg38UCSC Ensembl
Innerchr5:85327150..86490293hg19UCSC Ensembl
Outerchr5:85327150..86490293hg19UCSC Ensembl
Innerchr5:85362906..86526049hg18UCSC Ensembl
Outerchr5:85362906..86526049hg18UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg381163145
hg191163144
hg181163144
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25790273
Samples
Known GenesCOX7C, LOC100505878, LOC101929380, MIR3607, MIR4280, NBPF22P
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3890667
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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