A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3353228



Internal ID15200209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:135162563..135164461hg38UCSC Ensembl
Innerchr5:135163461..135163563hg38UCSC Ensembl
Outerchr5:135161563..135165461hg38UCSC Ensembl
chr5:134498253..134500151hg19UCSC Ensembl
Innerchr5:134499151..134499253hg19UCSC Ensembl
Outerchr5:134497253..134501151hg19UCSC Ensembl
chr5:134526152..134528050hg18UCSC Ensembl
Innerchr5:134527152..134527050hg18UCSC Ensembl
Outerchr5:134525152..134529050hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg381899
hg191899
hg181899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694576
SamplesNA19239
Known GenesC5orf66
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3353228
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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