A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2186n54



Internal ID20135610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:117188631..117257555hg38UCSC Ensembl
chr11:117059347..117128271hg19UCSC Ensembl
chr11:116564557..116633481hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3868925
hg1968925
hg1868925
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv556457, nsv556456
Samples
Known GenesLOC100652768, PCSK7, RNF214, SIDT2, TAGLN
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2186n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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