A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2651n54



Internal ID20136075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:57450266..57552694hg38UCSC Ensembl
chr12:57844049..57946477hg19UCSC Ensembl
chr12:56130316..56232744hg18UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38102429
hg19102429
hg18102429
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv559033, nsv559032
SamplesNINDS_70
Known GenesARHGAP9, DCTN2, DDIT3, GLI1, INHBC, INHBE, KIF5A, MARS, MBD6, MIR6758
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2651n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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