A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12291n54



Internal ID22780186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:117862171..117862962hg38UCSC Ensembl
chr8:118874410..118875201hg19UCSC Ensembl
chr8:118943591..118944382hg18UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg38792
hg19792
hg18792
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv612036, nsv612040, nsv612039, nsv612041, nsv612037, nsv612043, nsv612038
Samples
Known GenesEXT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12291n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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