A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892256



Internal ID18836390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:100007917..100225312hg38UCSC Ensembl
Outerchr12:100007917..100225312hg38UCSC Ensembl
Innerchr12:100401695..100619090hg19UCSC Ensembl
Outerchr12:100401695..100619090hg19UCSC Ensembl
Innerchr12:98925826..99143221hg18UCSC Ensembl
Outerchr12:98925826..99143221hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38217396
hg19217396
hg18217396
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25798960
Samples
Known GenesACTR6, GOLGA2P5, MIR1827, UHRF1BP1L
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892256
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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