A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694603



Internal ID15013521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149076496..149078094hg38UCSC Ensembl
Innerchr5:149077094..149077496hg38UCSC Ensembl
Outerchr5:149075496..149079094hg38UCSC Ensembl
chr5:148456059..148457657hg19UCSC Ensembl
Innerchr5:148456657..148457059hg19UCSC Ensembl
Outerchr5:148455059..148458657hg19UCSC Ensembl
chr5:148436252..148437850hg18UCSC Ensembl
Innerchr5:148437252..148436850hg18UCSC Ensembl
Outerchr5:148435252..148438850hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3397329
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694603
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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