A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5505837



Internal ID8483240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:70688979..70691578hg38UCSC Ensembl
chr10:72448735..72451334hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg382600
hg192600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2658231
Supporting Variants
SamplesNA11992
Known GenesADAMTS14
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5505837
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