A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787972



Internal ID19171523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:56948404..56983724hg38UCSC Ensembl
Innerchr12:57342188..57377508hg19UCSC Ensembl
Innerchr12:55628455..55663775hg18UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3835321
hg1935321
hg1835321
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892203
Supporting Variants
Samples
Known GenesRDH16
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=13
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787972
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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