A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3405323



Internal ID15252285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:13262253..13266451hg38UCSC Ensembl
Innerchr18:13263253..13265451hg38UCSC Ensembl
Outerchr18:13261253..13267451hg38UCSC Ensembl
chr18:13262252..13266450hg19UCSC Ensembl
Innerchr18:13263252..13265450hg19UCSC Ensembl
Outerchr18:13261252..13267450hg19UCSC Ensembl
chr18:13252252..13256450hg18UCSC Ensembl
Innerchr18:13253252..13255450hg18UCSC Ensembl
Outerchr18:13251252..13257450hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg384199
hg194199
hg184199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691113
SamplesNA19240
Known GenesLDLRAD4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3405323
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