A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv127n54



Internal ID20133551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12815282..12859212hg38UCSC Ensembl
chr1:12875424..12919067hg19UCSC Ensembl
chr1:12798011..12841654hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3843931
hg1943644
hg1843644
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545498, nsv545500, nsv545499, nsv545502, nsv545501
SamplesHGDP00662
Known GenesHNRNPCL1, LOC649330, PRAMEF11, PRAMEF2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv127n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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