A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv684e199



Internal ID20123986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:16751217..16753778hg38UCSC Ensembl
chr2:16932484..16935045hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg382562
hg192562
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2661326, esv2672666
SamplesNA19703
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv684e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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