A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5959098



Internal ID8936501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:60502487..60503912hg38UCSC Ensembl
chr17:58579848..58581273hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg381426
hg191426
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2677176
Supporting Variants
SamplesNA18501
Known GenesAPPBP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5959098
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer