A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10569006



Internal ID787261
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591555
Supporting Variants
SamplesHG00372
Known GenesRNF103-CHMP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10569006
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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