A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628504



Internal ID7015328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9419107..9430706hg38UCSC Ensembl
chr12:9571703..9583302hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3811600
hg1911600
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14366687, essv14366690, essv14366688, essv14366686, essv14366685, essv14366689
SamplesHG03189, NA19207, NA18966, HG02837, HG02982, HG03112
Known GenesDDX12P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628504
Frequency
Sample Size2504
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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