A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591843



Internal ID6632127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:105817382..105828455hg38UCSC Ensembl
Innerchr2:105817382..105828455hg38UCSC Ensembl
Outerchr2:105816882..105828955hg38UCSC Ensembl
chr2:106433839..106444911hg19UCSC Ensembl
Innerchr2:106433839..106444911hg19UCSC Ensembl
Outerchr2:106433339..106445411hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg3811074
hg1911073
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10599274
SamplesHG01253
Known GenesNCK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591843
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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