A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3413505



Internal ID15260464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:88310679..88312777hg38UCSC Ensembl
Innerchr5:88311679..88311777hg38UCSC Ensembl
Outerchr5:88309679..88313777hg38UCSC Ensembl
chr5:87606496..87608594hg19UCSC Ensembl
Innerchr5:87607496..87607594hg19UCSC Ensembl
Outerchr5:87605496..87609594hg19UCSC Ensembl
chr5:87642252..87644350hg18UCSC Ensembl
Innerchr5:87643252..87643350hg18UCSC Ensembl
Outerchr5:87641252..87645350hg18UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg382099
hg192099
hg182099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694983
SamplesNA19238
Known GenesTMEM161B-AS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3413505
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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