A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14336191



Internal ID4338007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1960803..1962620hg38UCSC Ensembl
Innerchr12:1960803..1962620hg38UCSC Ensembl
Outerchr12:1960560..1962855hg38UCSC Ensembl
chr12:2069969..2071786hg19UCSC Ensembl
Innerchr12:2069969..2071786hg19UCSC Ensembl
Outerchr12:2069726..2072021hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381818
hg191818
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628298
Supporting Variants
SamplesHG01108
Known GenesDCP1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14336191
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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