A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1588n100



Internal ID20153204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:131696755..131753633hg38UCSC Ensembl
chr12:132181300..132238178hg19UCSC Ensembl
chr12:130747253..130804131hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3856879
hg1956879
hg1856879
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1054753, nsv1050093
Samples
Known GenesSFSWAP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1588n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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