A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12092n54



Internal ID22779987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:39365305..39526709hg38UCSC Ensembl
chr8:39222824..39384228hg19UCSC Ensembl
chr8:39341981..39503385hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38161405
hg19161405
hg18161405
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv610992, nsv611008, nsv610965, nsv610954, nsv611009, nsv610952, nsv611043
Samples
Known GenesADAM3A, ADAM5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12092n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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