A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1548n100



Internal ID20153164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:97620592..97672233hg38UCSC Ensembl
chr12:98014370..98066011hg19UCSC Ensembl
chr12:96538501..96590142hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3851642
hg1951642
hg1851642
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1038747, nsv1036482
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1548n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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