A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672054



Internal ID9591473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:93408290..93449980hg38UCSC Ensembl
Outerchr9:93408253..93450030hg38UCSC Ensembl
Innerchr9:96170572..96212262hg19UCSC Ensembl
Outerchr9:96170535..96212312hg19UCSC Ensembl
Cytoband9q22.31
Allele length
AssemblyAllele length
hg3841778
hg1941778
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6399384
SamplesNA20809
Known GenesFAM120AOS
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672054
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