A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv87n21



Internal ID18990560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:151516..194154hg38UCSC Ensembl
chr12:260682..303320hg19UCSC Ensembl
chr12:130943..173581hg18UCSC Ensembl
chr12:130943..173581hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3842639
hg1942639
hg1842639
hg1742639
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv515938, nsv517911
Samples
Known GenesIQSEC3, SLC6A12
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)dgv87n21
Frequency
Sample Size2026
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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