A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666191



Internal ID9585610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:104767909..104773038hg38UCSC Ensembl
Outerchr9:104767872..104773088hg38UCSC Ensembl
Innerchr9:107530190..107535319hg19UCSC Ensembl
Outerchr9:107530153..107535369hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg385217
hg195217
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5865180
SamplesNA11893
Known GenesNIPSNAP3B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666191
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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