A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594289



Internal ID6981609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:216055489..216058734hg38UCSC Ensembl
Innerchr2:216055489..216058734hg38UCSC Ensembl
Outerchr2:216055220..216058926hg38UCSC Ensembl
chr2:216920212..216923457hg19UCSC Ensembl
Innerchr2:216920212..216923457hg19UCSC Ensembl
Outerchr2:216919943..216923649hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg383246
hg193246
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10846340, essv10846342, essv10846343, essv10846338, essv10846339, essv10846344, essv10846336, essv10846337, essv10846341
SamplesHG01066, NA19131, HG02461, HG03267, NA18867, HG02979, HG03442, HG02768, HG03445
Known GenesPECR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594289
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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