A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7318n54



Internal ID22775213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:226472641..226482648hg38UCSC Ensembl
chr2:227337357..227347364hg19UCSC Ensembl
chr2:227045601..227055608hg18UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3810008
hg1910008
hg1810008
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv584595, nsv584596
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7318n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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