A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590941



Internal ID6978269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:57588085..57597745hg38UCSC Ensembl
Innerchr2:57588585..57597245hg38UCSC Ensembl
Outerchr2:57587085..57598745hg38UCSC Ensembl
chr2:57815220..57824880hg19UCSC Ensembl
Innerchr2:57815720..57824380hg19UCSC Ensembl
Outerchr2:57814220..57825880hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg389661
hg199661
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10517445, essv10517444
SamplesHG04098, NA11892
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590941
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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