A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7349n54



Internal ID20140773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238238228..238241307hg38UCSC Ensembl
chr2:239146869..239149948hg19UCSC Ensembl
chr2:238811608..238814687hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg383080
hg193080
hg183080
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv584762, nsv584765, nsv584763
Samples
Known GenesHES6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7349n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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