A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2473n54



Internal ID20135897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31590260..31591002hg38UCSC Ensembl
chr12:31743194..31743936hg19UCSC Ensembl
chr12:31634461..31635203hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38743
hg19743
hg18743
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv558094, nsv558091
Samples
Known GenesDENND5B, DENND5B-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2473n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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