A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3401603



Internal ID15248565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:40247738..40251536hg38UCSC Ensembl
Innerchr9:40248738..40250536hg38UCSC Ensembl
Outerchr9:40246738..40252536hg38UCSC Ensembl
chr9:42392756..42396554hg19UCSC Ensembl
Innerchr9:42393756..42395554hg19UCSC Ensembl
Outerchr9:42391756..42397554hg19UCSC Ensembl
chr9:42382752..42386550hg18UCSC Ensembl
Innerchr9:42383752..42385550hg18UCSC Ensembl
Outerchr9:42381752..42387550hg18UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg383799
hg193799
hg183799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8696703
SamplesNA12878
Known GenesANKRD20A2, ANKRD20A3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3401603
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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