A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5910770



Internal ID8888173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:43181868..43183533hg38UCSC Ensembl
chr17:41333885..41335550hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381666
hg191666
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2672005
Supporting Variants
SamplesNA19920
Known GenesNBR1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5910770
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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