A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670351



Internal ID9589770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:105702216..105703044hg38UCSC Ensembl
Outerchr9:105702179..105703094hg38UCSC Ensembl
Innerchr9:108464497..108465325hg19UCSC Ensembl
Outerchr9:108464460..108465375hg19UCSC Ensembl
Cytoband9q31.2
Allele length
AssemblyAllele length
hg38916
hg19916
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5962651, essv5431089
SamplesNA07346, NA12348
Known GenesTMEM38B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670351
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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