A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790927



Internal ID19161713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:64694050..64778699hg38UCSC Ensembl
Innerchr6:65403943..65488592hg19UCSC Ensembl
Innerchr6:65460664..65545313hg18UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg3884650
hg1984650
hg1884650
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890866
Supporting Variants
Samples
Known GenesEYS
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=17
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790927
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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