A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11309n54



Internal ID19003485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:44227212..44227484hg38UCSC Ensembl
chr7:44266811..44267083hg19UCSC Ensembl
chr7:44233336..44233608hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38273
hg19273
hg18273
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv606798, nsv606800
Samples
Known GenesCAMK2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11309n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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