A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14593881



Internal ID392674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:103386750..103430070hg38UCSC Ensembl
chr12:103780528..103823848hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg3843321
hg1943321
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630612
Supporting Variants
SamplesHG00115
Known GenesC12orf42
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14593881
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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