A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3448583



Internal ID15295532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:13262253..13263051hg38UCSC Ensembl
Innerchr18:13262252..13263052hg38UCSC Ensembl
Outerchr18:13261253..13264051hg38UCSC Ensembl
chr18:13262252..13263050hg19UCSC Ensembl
Innerchr18:13262251..13263051hg19UCSC Ensembl
Outerchr18:13261252..13264050hg19UCSC Ensembl
chr18:13252252..13253050hg18UCSC Ensembl
Innerchr18:13253051..13252251hg18UCSC Ensembl
Outerchr18:13251252..13254050hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38799
hg19799
hg18799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691112
SamplesNA19238
Known GenesLDLRAD4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3448583
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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