A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591950



Internal ID6632234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:110095276..110225397hg38UCSC Ensembl
chr2:110852853..110982974hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38130122
hg19130122
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv727e214
Supporting Variantsessv10615147, essv10615156, essv10615152, essv10615153, essv10615149, essv10615155, essv10615157, essv10615150, essv10615148, essv10615151, essv10615154
SamplesNA18627, HG00127, NA18558, HG00120, HG00732, HG04162, HG03388, HG01075, HG01896, NA20348, HG00255
Known GenesLINC00116, MALL, NPHP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591950
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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