A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7005n54



Internal ID20140429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:110131531..110217118hg38UCSC Ensembl
chr2:110889108..110974695hg19UCSC Ensembl
chr2:110246397..110331984hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3885588
hg1985588
hg1885588
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv582689, nsv582691
SamplesHGDP00029
Known GenesLINC00116, NPHP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7005n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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