A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10599287



Internal ID601103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:105822274..105824282hg38UCSC Ensembl
Innerchr2:105822274..105824282hg38UCSC Ensembl
Outerchr2:105821993..105824576hg38UCSC Ensembl
chr2:106438730..106440738hg19UCSC Ensembl
Innerchr2:106438730..106440738hg19UCSC Ensembl
Outerchr2:106438449..106441032hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg382009
hg192009
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591844
Supporting Variants
SamplesHG03367
Known GenesNCK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10599287
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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