A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11999n54



Internal ID22779894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:14281798..14303529hg38UCSC Ensembl
chr8:14139307..14161038hg19UCSC Ensembl
chr8:14183678..14205409hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3821732
hg1921732
hg1821732
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv610463, nsv610464
SamplesHGDP01102, NINDS_89
Known GenesSGCZ
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11999n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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