A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688099



Internal ID14693701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:46220510..46242008hg38UCSC Ensembl
Innerchr10:46221510..46241008hg38UCSC Ensembl
Outerchr10:46219510..46243008hg38UCSC Ensembl
chr10:47591746..47613244hg19UCSC Ensembl
Innerchr10:47592746..47612244hg19UCSC Ensembl
Outerchr10:47590746..47614244hg19UCSC Ensembl
chr10:47061752..47083250hg18UCSC Ensembl
Innerchr10:47062752..47082250hg18UCSC Ensembl
Outerchr10:47060752..47084250hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3821499
hg1921499
hg1821499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3327825
Supporting Variants
SamplesNA19239
Known GenesANTXRLP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688099
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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