A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696704



Internal ID13731553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:40262438..40269336hg38UCSC Ensembl
Innerchr9:40263438..40268336hg38UCSC Ensembl
Outerchr9:40261438..40270336hg38UCSC Ensembl
chr9:42407456..42414354hg19UCSC Ensembl
Innerchr9:42408456..42413354hg19UCSC Ensembl
Outerchr9:42406456..42415354hg19UCSC Ensembl
chr9:42397452..42404350hg18UCSC Ensembl
Innerchr9:42398452..42403350hg18UCSC Ensembl
Outerchr9:42396452..42405350hg18UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg386899
hg196899
hg186899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3411851
Supporting Variants
SamplesNA12892
Known GenesANKRD20A2, ANKRD20A3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696704
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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