A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14514576



Internal ID6391194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:64300500..64325720hg38UCSC Ensembl
chr12:64694280..64719500hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg3825221
hg1925221
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629771
Supporting Variants
SamplesNA20339
Known GenesC12orf56
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14514576
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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