A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688114



Internal ID14731778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:49741400..49745098hg38UCSC Ensembl
Innerchr10:49742400..49744098hg38UCSC Ensembl
Outerchr10:49740400..49746098hg38UCSC Ensembl
chr10:50949446..50953144hg19UCSC Ensembl
Innerchr10:50950446..50952144hg19UCSC Ensembl
Outerchr10:50948446..50954144hg19UCSC Ensembl
chr10:50619452..50623150hg18UCSC Ensembl
Innerchr10:50620452..50622150hg18UCSC Ensembl
Outerchr10:50618452..50624150hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg383699
hg193699
hg183699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3401087
Supporting Variants
SamplesNA19240
Known GenesOGDHL
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688114
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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