A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7003n54



Internal ID20140427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:110099666..110177146hg38UCSC Ensembl
chr2:110857243..110934723hg19UCSC Ensembl
chr2:110214532..110292012hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3877481
hg1977481
hg1877481
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv582680, nsv582669
Samples
Known GenesMALL, NPHP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7003n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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