A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11932n54



Internal ID20145356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7823387..7949609hg38UCSC Ensembl
chr8:7680909..7807131hg19UCSC Ensembl
chr8:7718319..7844541hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38126223
hg19126223
hg18126223
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv610110, nsv610120, nsv610111, nsv610121, nsv610122
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB4A, SPAG11A, SPAG11B, ZNF705B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11932n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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