A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7886n54



Internal ID20141310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44297614..44300692hg38UCSC Ensembl
chr21:45717497..45720575hg19UCSC Ensembl
chr21:44541925..44545003hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg383079
hg193079
hg183079
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv587777, nsv587776
Samples
Known GenesAIRE, PFKL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7886n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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