A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590998



Internal ID6978326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:60056389..60061176hg38UCSC Ensembl
Innerchr2:60056389..60061176hg38UCSC Ensembl
Outerchr2:60056278..60061337hg38UCSC Ensembl
chr2:60283524..60288311hg19UCSC Ensembl
Innerchr2:60283524..60288311hg19UCSC Ensembl
Outerchr2:60283413..60288472hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg384788
hg194788
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10519376, essv10519378, essv10519379, essv10519377
SamplesHG01067, HG01183, HG01612, HG01204
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590998
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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