A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2326n54



Internal ID20135750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6951683..6960947hg38UCSC Ensembl
chr12:7060846..7070110hg19UCSC Ensembl
chr12:6931107..6940371hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg389265
hg199265
hg189265
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557267, nsv557268
Samples
Known GenesPTPN6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2326n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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