A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2e199



Internal ID20123304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1653096..1721890hg38UCSC Ensembl
chr1:1583664..1653329hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3868795
hg1969666
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2659357, esv2670087
SamplesNA12400, NA18982, HG01354
Known GenesCDK11A, CDK11B, MMP23A, SLC35E2B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv2e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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