A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2848n54



Internal ID22770743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:106247307..106248612hg38UCSC Ensembl
chr12:106641085..106642390hg19UCSC Ensembl
chr12:105165215..105166520hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg381306
hg191306
hg181306
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560070, nsv560080
Samples
Known GenesCKAP4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2848n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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