A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628381



Internal ID7015205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:5283096..5293243hg38UCSC Ensembl
chr12:5392262..5402409hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3810148
hg1910148
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14344335, essv14344333, essv14344330, essv14344331, essv14344334, essv14344332
SamplesHG01815, NA12004, HG03808, HG00369, HG00182, HG01272
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628381
Frequency
Sample Size2504
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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