A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2438n54



Internal ID22770333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:29005250..29011582hg38UCSC Ensembl
chr12:29158183..29164515hg19UCSC Ensembl
chr12:29049450..29055782hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg386333
hg196333
hg186333
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557889, nsv557888
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2438n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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