A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14479917



Internal ID1283231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50751758..50753805hg38UCSC Ensembl
Innerchr12:50751766..50753798hg38UCSC Ensembl
Outerchr12:50751751..50753813hg38UCSC Ensembl
chr12:51145541..51147588hg19UCSC Ensembl
Innerchr12:51145549..51147581hg19UCSC Ensembl
Outerchr12:51145534..51147596hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg382048
hg192048
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629486
Supporting Variants
SamplesHG01130
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14479917
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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