A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696705



Internal ID13658391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:40263738..40269436hg38UCSC Ensembl
Innerchr9:40264738..40268436hg38UCSC Ensembl
Outerchr9:40262738..40270436hg38UCSC Ensembl
chr9:42408756..42414454hg19UCSC Ensembl
Innerchr9:42409756..42413454hg19UCSC Ensembl
Outerchr9:42407756..42415454hg19UCSC Ensembl
chr9:42398752..42404450hg18UCSC Ensembl
Innerchr9:42399752..42403450hg18UCSC Ensembl
Outerchr9:42397752..42405450hg18UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg385699
hg195699
hg185699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3342096
Supporting Variants
SamplesNA12878
Known GenesANKRD20A2, ANKRD20A3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696705
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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