A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691289



Internal ID15028631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:76343709..76344707hg38UCSC Ensembl
Innerchr18:76343708..76344708hg38UCSC Ensembl
Outerchr18:76342709..76345707hg38UCSC Ensembl
chr18:74055664..74056662hg19UCSC Ensembl
Innerchr18:74055663..74056663hg19UCSC Ensembl
Outerchr18:74054664..74057662hg19UCSC Ensembl
chr18:72184652..72185650hg18UCSC Ensembl
Innerchr18:72185651..72184651hg18UCSC Ensembl
Outerchr18:72183652..72186650hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38999
hg19999
hg18999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3410343
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691289
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