A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5527937



Internal ID8505340
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 Flag1
Merged StatusS
Merged Variantsesv2669509
Supporting Variants
SamplesNA06986
Known GenesMAPT-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5527937
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