A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14593839



Internal ID4452561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:103295107..103307612hg38UCSC Ensembl
chr12:103688885..103701390hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg3812506
hg1912506
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630609
Supporting Variants
SamplesHG03960
Known GenesC12orf42
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14593839
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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