A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630806



Internal ID7017621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:114042808..114043706hg38UCSC Ensembl
Innerchr12:114042811..114043703hg38UCSC Ensembl
Outerchr12:114042805..114043709hg38UCSC Ensembl
chr12:114480613..114481511hg19UCSC Ensembl
Innerchr12:114480616..114481508hg19UCSC Ensembl
Outerchr12:114480610..114481514hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38899
hg19899
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14607312, essv14607311
SamplesHG01970, HG02235
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630806
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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