A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7328n54



Internal ID22775223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:228894612..228895244hg38UCSC Ensembl
chr2:229759328..229759960hg19UCSC Ensembl
chr2:229467572..229468204hg18UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38633
hg19633
hg18633
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv584641, nsv584642, nsv584643, nsv584646
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7328n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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