A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6692n54



Internal ID20140116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:11724820..11758805hg38UCSC Ensembl
chr2:11864946..11898931hg19UCSC Ensembl
chr2:11782397..11816382hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3833986
hg1933986
hg1833986
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv580973, nsv580974
Samples
Known GenesLPIN1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6692n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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