A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14607312



Internal ID2520307
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630806
Supporting Variants
SamplesHG02235
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14607312
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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