A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594012



Internal ID6981333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:203306124..203310100hg38UCSC Ensembl
Innerchr2:203306124..203310100hg38UCSC Ensembl
Outerchr2:203306023..203310190hg38UCSC Ensembl
chr2:204170847..204174823hg19UCSC Ensembl
Innerchr2:204170847..204174823hg19UCSC Ensembl
Outerchr2:204170746..204174913hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg383977
hg193977
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10825295
SamplesNA19190
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594012
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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