A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892203



Internal ID19183023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:56948404..56976126hg38UCSC Ensembl
Outerchr12:56948404..56983725hg38UCSC Ensembl
Innerchr12:57342188..57369910hg19UCSC Ensembl
Outerchr12:57342188..57377509hg19UCSC Ensembl
Innerchr12:55628455..55656177hg18UCSC Ensembl
Outerchr12:55628455..55663776hg18UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3835322
hg1935322
hg1835322
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25787972, essv25781631, essv25778412, essv25780211
Samples
Known GenesRDH16
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892203
Frequency
Sample Size3017
Observed Gain1
Observed Loss3
Observed Complex0
Frequencyn/a


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