A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv215n21



Internal ID22766407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:40191246..40224584hg38UCSC Ensembl
chr2:40418386..40451724hg19UCSC Ensembl
chr2:40271890..40305228hg18UCSC Ensembl
chr2:40330037..40363375hg17UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3833339
hg1933339
hg1833339
hg1733339
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv526425, nsv526074
Samples
Known GenesSLC8A1, SLC8A1-AS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)dgv215n21
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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