A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788082



Internal ID19175117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:62338170..62527080hg38UCSC Ensembl
Innerchr5:61633997..61822907hg19UCSC Ensembl
Innerchr5:61669754..61858664hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38188911
hg19188911
hg18188911
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3894198
Supporting Variants
Samples
Known GenesDIMT1, IPO11, KIF2A
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=30
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788082
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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