A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591846



Internal ID6632130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:105862945..105866501hg38UCSC Ensembl
Innerchr2:105862945..105866501hg38UCSC Ensembl
Outerchr2:105862733..105866927hg38UCSC Ensembl
chr2:106479401..106482957hg19UCSC Ensembl
Innerchr2:106479401..106482957hg19UCSC Ensembl
Outerchr2:106479189..106483383hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg383557
hg193557
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10600407, essv10600406, essv10600408, essv10600405
SamplesHG03910, HG03887, HG01565, HG04019
Known GenesNCK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591846
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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