A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788727



Internal ID18812891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:113099321..113527932hg38UCSC Ensembl
Innerchr12:113537126..113965737hg19UCSC Ensembl
Innerchr12:112021509..112450120hg18UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg38428612
hg19428612
hg18428612
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892265
Supporting Variants
Samples
Known GenesC12orf52, CCDC42B, DDX54, IQCD, LHX5, MIR6762, MIR7106, PLBD2, RASAL1, SDS, SDSL, SLC8B1, TPCN1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=56
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788727
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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