A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7000n54



Internal ID20140424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:110059554..110227938hg38UCSC Ensembl
chr2:110817131..110985515hg19UCSC Ensembl
chr2:110174420..110342804hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38168385
hg19168385
hg18168385
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv582657, nsv582659, nsv582661
Samples
Known GenesLINC00116, MALL, MIR4267, MIR4436B1, MIR4436B2, NPHP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7000n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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