A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591833



Internal ID6979161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:105722364..105742588hg38UCSC Ensembl
Innerchr2:105722364..105742588hg38UCSC Ensembl
Outerchr2:105721864..105743088hg38UCSC Ensembl
chr2:106338821..106359045hg19UCSC Ensembl
Innerchr2:106338821..106359045hg19UCSC Ensembl
Outerchr2:106338321..106359545hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg3820225
hg1920225
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10599228
SamplesHG01253
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591833
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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