A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7007n54



Internal ID20140431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:110628656..110694962hg38UCSC Ensembl
chr2:111386233..111452539hg19UCSC Ensembl
chr2:111102702..111169010hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3866307
hg1966307
hg1866309
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv582698, nsv582697
Samples
Known GenesBUB1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7007n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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