A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13415188



Internal ID3417004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:18831160..18952565hg38UCSC Ensembl
chr9:18831158..18952563hg19UCSC Ensembl
Cytoband9p22.1
Allele length
AssemblyAllele length
hg38121406
hg19121406
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3619882
Supporting Variants
SamplesNA20795
Known GenesADAMTSL1, FAM154A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13415188
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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