A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591957



Internal ID6632241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:110139413..110160345hg38UCSC Ensembl
chr2:110896990..110917922hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3820933
hg1920933
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10615270, essv10615277, essv10615275, essv10615276, essv10615269, essv10615271, essv10615279, essv10615272, essv10615274, essv10615278, essv10615273
SamplesHG01896, HG01075, HG00127, NA18627, NA20348, HG00732, HG00255, NA18558, HG04162, HG00120, HG03388
Known GenesNPHP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591957
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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