A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3372270



Internal ID15219246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:63118560..63124358hg38UCSC Ensembl
Innerchr9:63119560..63123358hg38UCSC Ensembl
Outerchr9:63117560..63125358hg38UCSC Ensembl
chr9:67023532..67029330hg19UCSC Ensembl
Innerchr9:67024532..67028330hg19UCSC Ensembl
Outerchr9:67022532..67030330hg19UCSC Ensembl
chr9:66763352..66769150hg18UCSC Ensembl
Innerchr9:66764352..66768150hg18UCSC Ensembl
Outerchr9:66762352..66770150hg18UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg385799
hg195799
hg185799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8697095
SamplesNA12891
Known GenesLOC286297
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3372270
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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