A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694983



Internal ID15016133
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 StatusS
Merged Variantsesv3413505
Supporting Variants
SamplesNA19238
Known GenesTMEM161B-AS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694983
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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