A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv686e199



Internal ID20123988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:28985093..28989854hg38UCSC Ensembl
chr2:29207959..29212720hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg384762
hg194762
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2658167, esv2656936
SamplesNA20809, NA19663
Known GenesFAM179A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv686e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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