A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591555



Internal ID6978883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:86687745..86701238hg38UCSC Ensembl
Innerchr2:86688245..86700738hg38UCSC Ensembl
Outerchr2:86686745..86702238hg38UCSC Ensembl
chr2:86914868..86928361hg19UCSC Ensembl
Innerchr2:86915368..86927861hg19UCSC Ensembl
Outerchr2:86913868..86929361hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3813494
hg1913494
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10569005, essv10569006
SamplesHG00371, HG00372
Known GenesRNF103-CHMP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591555
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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