A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2935n54



Internal ID18995111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124537169..124541785hg38UCSC Ensembl
chr12:125021715..125026331hg19UCSC Ensembl
chr12:123587668..123592284hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg384617
hg194617
hg184617
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560547, nsv560546
Samples
Known GenesNCOR2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2935n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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