A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696828



Internal ID13659342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:64396258..64399168hg38UCSC Ensembl
Innerchr9:64397268..64398167hg38UCSC Ensembl
Outerchr9:64395258..64400164hg38UCSC Ensembl
chr9:43103956..43106854hg19UCSC Ensembl
Innerchr9:43104956..43105854hg19UCSC Ensembl
Outerchr9:43102956..43107854hg19UCSC Ensembl
chr9:43093952..43096850hg18UCSC Ensembl
Innerchr9:43094952..43095850hg18UCSC Ensembl
Outerchr9:43092952..43097850hg18UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg382911
hg192899
hg182899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3420472
Supporting Variants
SamplesNA12878
Known GenesANKRD20A2, ANKRD20A3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696828
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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