A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7873n54



Internal ID20141297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43551697..43555248hg38UCSC Ensembl
chr21:44971578..44975129hg19UCSC Ensembl
chr21:43796006..43799557hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg383552
hg193552
hg183552
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv587699, nsv587698
Samples
Known GenesHSF2BP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7873n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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