A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787255



Internal ID18821484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:163103712..163233339hg38UCSC Ensembl
Innerchr1:163073502..163203129hg19UCSC Ensembl
Innerchr1:161340126..161469753hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38129628
hg19129628
hg18129628
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890704
Supporting Variants
Samples
Known GenesRGS5
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=38
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787255
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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