A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv768e199



Internal ID20124070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233485672..233491389hg38UCSC Ensembl
chr2:234394318..234400035hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg385718
hg195718
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2661602, esv2661113
SamplesNA18597
Known GenesUSP40
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv768e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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