A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv149n54



Internal ID18992325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:15683567..15684784hg38UCSC Ensembl
chr1:16010062..16011279hg19UCSC Ensembl
chr1:15882649..15883866hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg381218
hg191218
hg181218
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545611, nsv545610, nsv545609, nsv545604
Samples
Known GenesPLEKHM2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv149n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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