A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14606281



Internal ID4608097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112988703..113838810hg38UCSC Ensembl
Innerchr12:112988853..113838660hg38UCSC Ensembl
Outerchr12:112988553..113838960hg38UCSC Ensembl
chr12:113426508..114276615hg19UCSC Ensembl
Innerchr12:113426658..114276465hg19UCSC Ensembl
Outerchr12:113426358..114276765hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg38850108
hg19850108
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630792
Supporting Variants
SamplesNA20348
Known GenesC12orf52, CCDC42B, DDX54, DTX1, IQCD, LHX5, MIR6762, MIR7106, OAS2, PLBD2, RASAL1, RBM19, SDS, SDSL, SLC8B1, TPCN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14606281
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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