A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2340n54



Internal ID22770235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8220161..8224848hg38UCSC Ensembl
chr12:8372757..8377444hg19UCSC Ensembl
chr12:8264024..8268711hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg384688
hg194688
hg184688
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557335, nsv557334
Samples
Known GenesFAM90A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2340n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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