A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789502



Internal ID19180969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:81194463..81323227hg38UCSC Ensembl
Innerchr5:80490282..80619046hg19UCSC Ensembl
Innerchr5:80526038..80654802hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38128765
hg19128765
hg18128765
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890664
Supporting Variants
Samples
Known GenesCKMT2, CKMT2-AS1, RASGRF2, RNU5D-1, RNU5E-1, ZCCHC9
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=31
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789502
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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