A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691113



Internal ID15104132
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 StatusS
Merged Variantsesv3405323
Supporting Variants
SamplesNA19240
Known GenesLDLRAD4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691113
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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