A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv129n54



Internal ID20133553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12830906..12954384hg38UCSC Ensembl
chr1:12890761..13014883hg19UCSC Ensembl
chr1:12813348..12937470hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38123479
hg19124123
hg18124123
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545526, nsv545516, nsv545517, nsv545504, nsv545508
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF10, PRAMEF11, PRAMEF2, PRAMEF4, PRAMEF6, PRAMEF7, PRAMEF8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv129n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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