A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11312n54



Internal ID22779207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:44959115..44962092hg38UCSC Ensembl
chr7:44998714..45001691hg19UCSC Ensembl
chr7:44965239..44968216hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg382978
hg192978
hg182978
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv606811, nsv606813, nsv606812, nsv606810
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11312n54
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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