A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7380n54



Internal ID22775275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240923534..240924916hg38UCSC Ensembl
chr2:241862951..241864333hg19UCSC Ensembl
chr2:241511624..241513006hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381383
hg191383
hg181383
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv584909, nsv584914, nsv584895, nsv584907, nsv584910, nsv584899, nsv584897, nsv584898, nsv584915, nsv584896
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7380n54
Frequency
Sample Size17421
Observed Gain285
Observed Loss108
Observed Complex0
Frequencyn/a


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