A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv134n54



Internal ID22768029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12855993..13050003hg38UCSC Ensembl
chr1:12915847..13052921hg19UCSC Ensembl
chr1:12838434..12975508hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38194011
hg19137075
hg18137075
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545527, nsv545528
Samples
Known GenesPRAMEF10, 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)dgv134n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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