A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv125n54



Internal ID20133549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12800601..13048420hg38UCSC Ensembl
chr1:12860749..13051338hg19UCSC Ensembl
chr1:12783336..12973925hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38247820
hg19190590
hg18190590
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545473, nsv545472
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF10, PRAMEF11, PRAMEF2, PRAMEF22, PRAMEF4, PRAMEF6, PRAMEF7, PRAMEF8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv125n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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