A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv98n21



Internal ID20131819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:75253008..75347103hg38UCSC Ensembl
chr12:75646788..75740883hg19UCSC Ensembl
chr12:73933055..74027150hg18UCSC Ensembl
chr12:73933055..74027150hg17UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3894096
hg1994096
hg1894096
hg1794096
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv526556, nsv520424
Samples
Known GenesCAPS2, GLIPR1L1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)dgv98n21
Frequency
Sample Size2026
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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