A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11301n54



Internal ID19003477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:44226585..44229186hg38UCSC Ensembl
chr7:44266184..44268785hg19UCSC Ensembl
chr7:44232709..44235310hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg382602
hg192602
hg182602
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv606765, nsv606788, nsv606760, nsv606783, nsv606771
Samples
Known GenesCAMK2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11301n54
Frequency
Sample Size17421
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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