A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696699



Internal ID13658327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:40231938..40235236hg38UCSC Ensembl
Innerchr9:40232938..40234236hg38UCSC Ensembl
Outerchr9:40230938..40236236hg38UCSC Ensembl
chr9:42376956..42380254hg19UCSC Ensembl
Innerchr9:42377956..42379254hg19UCSC Ensembl
Outerchr9:42375956..42381254hg19UCSC Ensembl
chr9:42366952..42370250hg18UCSC Ensembl
Innerchr9:42367952..42369250hg18UCSC Ensembl
Outerchr9:42365952..42371250hg18UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg383299
hg193299
hg183299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3419087
Supporting Variants
SamplesNA12878
Known GenesANKRD20A2, ANKRD20A3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696699
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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