A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593080



Internal ID6980404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:158739262..158742344hg38UCSC Ensembl
Innerchr2:158739262..158742344hg38UCSC Ensembl
Outerchr2:158738993..158742642hg38UCSC Ensembl
chr2:159595774..159598856hg19UCSC Ensembl
Innerchr2:159595774..159598856hg19UCSC Ensembl
Outerchr2:159595505..159599154hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg383083
hg193083
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10727791
SamplesHG04227
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593080
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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