A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669509



Internal ID9588928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45847702..45851880hg38UCSC Ensembl
chr17:43925068..43929246hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg384179
hg194179
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5527937
SamplesNA06986
Known GenesMAPT-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669509
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