A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694602



Internal ID15045831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:148959896..148960994hg38UCSC Ensembl
Innerchr5:148959994..148960896hg38UCSC Ensembl
Outerchr5:148958896..148961994hg38UCSC Ensembl
chr5:148339459..148340557hg19UCSC Ensembl
Innerchr5:148339557..148340459hg19UCSC Ensembl
Outerchr5:148338459..148341557hg19UCSC Ensembl
chr5:148319652..148320750hg18UCSC Ensembl
Innerchr5:148320652..148319750hg18UCSC Ensembl
Outerchr5:148318652..148321750hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3393121
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694602
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer