A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593772



Internal ID6981095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:191816687..191826254hg38UCSC Ensembl
Innerchr2:191816837..191826104hg38UCSC Ensembl
Outerchr2:191816537..191826404hg38UCSC Ensembl
chr2:192681413..192690980hg19UCSC Ensembl
Innerchr2:192681563..192690830hg19UCSC Ensembl
Outerchr2:192681263..192691130hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg389568
hg199568
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10803889, essv10803888
SamplesHG03873, HG04035
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593772
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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