A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11304n54



Internal ID19003480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:44226790..44227425hg38UCSC Ensembl
chr7:44266389..44267024hg19UCSC Ensembl
chr7:44232914..44233549hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38636
hg19636
hg18636
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv606768, nsv606772
Samples
Known GenesCAMK2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11304n54
Frequency
Sample Size17421
Observed Gain9
Observed Loss7
Observed Complex0
Frequencyn/a


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