A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1557n100



Internal ID20153173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112483896..112502507hg38UCSC Ensembl
chr12:112921700..112940311hg19UCSC Ensembl
chr12:111406083..111424694hg18UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg3818612
hg1918612
hg1818612
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1051887, nsv1043449
Samples
Known GenesPTPN11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1557n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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