A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591731



Internal ID6979059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:98982203..98991035hg38UCSC Ensembl
Innerchr2:98982203..98991035hg38UCSC Ensembl
Outerchr2:98981703..98991535hg38UCSC Ensembl
chr2:99598666..99607498hg19UCSC Ensembl
Innerchr2:99598666..99607498hg19UCSC Ensembl
Outerchr2:99598166..99607998hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg388833
hg198833
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10593953, essv10593950, essv10593951, essv10593952, essv10593954
SamplesHG03773, HG00729, HG03887, NA21105, HG03021
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591731
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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