A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11305n54



Internal ID19003481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:44226842..44227535hg38UCSC Ensembl
chr7:44266441..44267134hg19UCSC Ensembl
chr7:44232966..44233659hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38694
hg19694
hg18694
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv606774, nsv606776, nsv606773
Samples
Known GenesCAMK2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11305n54
Frequency
Sample Size17421
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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