A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892265



Internal ID18836399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:113099321..113527932hg38UCSC Ensembl
Outerchr12:113099321..113527932hg38UCSC Ensembl
Innerchr12:113537126..113965737hg19UCSC Ensembl
Outerchr12:113537126..113965737hg19UCSC Ensembl
Innerchr12:112021509..112450120hg18UCSC Ensembl
Outerchr12:112021509..112450120hg18UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg38428612
hg19428612
hg18428612
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25788727
Samples
Known GenesC12orf52, CCDC42B, DDX54, IQCD, LHX5, MIR6762, MIR7106, PLBD2, RASAL1, SDS, SDSL, SLC8B1, TPCN1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892265
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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