A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590490



Internal ID6977819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:41845057..41867646hg38UCSC Ensembl
Innerchr2:41845079..41867624hg38UCSC Ensembl
Outerchr2:41845035..41867668hg38UCSC Ensembl
chr2:42072197..42094786hg19UCSC Ensembl
Innerchr2:42072219..42094764hg19UCSC Ensembl
Outerchr2:42072175..42094808hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3822590
hg1922590
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10478244
SamplesHG03280
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590490
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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