A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694645



Internal ID15046337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172751544..172752542hg38UCSC Ensembl
Innerchr5:172751543..172752543hg38UCSC Ensembl
Outerchr5:172750544..172753542hg38UCSC Ensembl
chr5:172178547..172179545hg19UCSC Ensembl
Innerchr5:172178546..172179546hg19UCSC Ensembl
Outerchr5:172177547..172180545hg19UCSC Ensembl
chr5:172111152..172112150hg18UCSC Ensembl
Innerchr5:172112151..172111151hg18UCSC Ensembl
Outerchr5:172110152..172113150hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38999
hg19999
hg18999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3336686
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694645
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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