A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593123



Internal ID6980447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:159625378..159632267hg38UCSC Ensembl
Innerchr2:159625378..159632267hg38UCSC Ensembl
Outerchr2:159625232..159632374hg38UCSC Ensembl
chr2:160481889..160488778hg19UCSC Ensembl
Innerchr2:160481889..160488778hg19UCSC Ensembl
Outerchr2:160481743..160488885hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg386890
hg196890
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10732945
SamplesHG01101
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593123
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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