A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591756



Internal ID6979084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:100598933..100617261hg38UCSC Ensembl
chr2:101215395..101233723hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3818329
hg1918329
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10597251, essv10597249, essv10597250, essv10597252, essv10597248
SamplesHG03229, HG03937, HG03902, HG03940, HG04200
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591756
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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