A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590094



Internal ID6630381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:25457997..25461090hg38UCSC Ensembl
Innerchr2:25457997..25461090hg38UCSC Ensembl
Outerchr2:25457730..25461420hg38UCSC Ensembl
chr2:25680866..25683959hg19UCSC Ensembl
Innerchr2:25680866..25683959hg19UCSC Ensembl
Outerchr2:25680599..25684289hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg383094
hg193094
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10433135, essv10433134, essv10433133, essv10433130, essv10433132, essv10433131
SamplesHG02023, HG02407, HG00657, HG00355, HG04152, HG01815
Known GenesDTNB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590094
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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