A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628987



Internal ID7015809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:29052246..29073627hg38UCSC Ensembl
chr12:29205179..29226560hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3821382
hg1921382
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14422989, essv14422988, essv14422990, essv14422991
SamplesNA19651, NA20544, HG03703, HG00329
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628987
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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