A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14553275



Internal ID6102214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:83956494..84063014hg38UCSC Ensembl
chr12:84350273..84456793hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38106521
hg19106521
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630200
Supporting Variants
SamplesNA19475
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14553275
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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