A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669087



Internal ID9588506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:129611566..129612496hg38UCSC Ensembl
chr9:132373845..132374775hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg38931
hg19931
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5413100, essv6169593
SamplesNA18870, NA19985
Known GenesC9orf50, NTMT1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669087
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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