A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11925n54



Internal ID22779820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7507765..7574064hg38UCSC Ensembl
chr8:7365287..7431586hg19UCSC Ensembl
chr8:7352697..7418996hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3866300
hg1966300
hg1866300
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv610089, nsv610090
Samples
Known GenesDEFB107A, DEFB107B, FAM90A7P, PRR23D1, PRR23D2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11925n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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