A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628408



Internal ID6668551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6537046..6544615hg38UCSC Ensembl
chr12:6646212..6653781hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg387570
hg197570
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14346206, essv14346208, essv14346209, essv14346212, essv14346205, essv14346203, essv14346210, essv14346211, essv14346207, essv14346204
SamplesHG02337, HG01702, NA19923, NA20127, HG03081, HG02586, HG02941, NA20348, HG02676, HG03129
Known GenesGAPDH, IFFO1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628408
Frequency
Sample Size2504
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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