A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11269n54



Internal ID22779164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:32166807..32383787hg38UCSC Ensembl
chr7:32206419..32423399hg19UCSC Ensembl
chr7:32172944..32389924hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38216981
hg19216981
hg18216981
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv606591, nsv606592, nsv606593, nsv606594
Samples1780854338_A
Known GenesPDE1C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11269n54
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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