A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3621540



Internal ID6661718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:113279513..113421563hg38UCSC Ensembl
Innerchr9:113279663..113421413hg38UCSC Ensembl
Outerchr9:113279363..113421713hg38UCSC Ensembl
chr9:116041793..116183843hg19UCSC Ensembl
Innerchr9:116041943..116183693hg19UCSC Ensembl
Outerchr9:116041643..116183993hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38142051
hg19142051
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13606703
SamplesHG01602
Known GenesALAD, BSPRY, C9orf43, HDHD3, POLE3, PRPF4, RNF183, WDR31
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3621540
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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