A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7233n54



Internal ID20140657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:188931546..188991217hg38UCSC Ensembl
chr2:189796272..189855943hg19UCSC Ensembl
chr2:189504517..189564188hg18UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg3859672
hg1959672
hg1859672
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv584056, nsv584057, nsv584058
Samples1780862459_A
Known GenesCOL3A1, MIR1245A, MIR1245B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7233n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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