A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309266



Internal ID14809530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:71433775..71433776hg38UCSC Ensembl
Innerchr10:71433758..71433793hg38UCSC Ensembl
Outerchr10:71433757..71433794hg38UCSC Ensembl
chr10:73193532..73193533hg19UCSC Ensembl
Innerchr10:73193515..73193550hg19UCSC Ensembl
Outerchr10:73193514..73193551hg19UCSC Ensembl
chr10:72863538..72863539hg18UCSC Ensembl
Innerchr10:72863556..72863521hg18UCSC Ensembl
Outerchr10:72863520..72863557hg18UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg38294
hg19294
hg18294
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7841443, essv7839958
SamplesNA12892, NA12878
Known GenesCDH23
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309266
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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