A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3431467



Internal ID14931737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:57062174..57062321hg38UCSC Ensembl
Innerchr18:57062174..57062321hg38UCSC Ensembl
Outerchr18:57062059..57062533hg38UCSC Ensembl
chr18:54729405..54729552hg19UCSC Ensembl
Innerchr18:54729405..54729552hg19UCSC Ensembl
Outerchr18:54729290..54729764hg19UCSC Ensembl
chr18:52880403..52880550hg18UCSC Ensembl
Innerchr18:52880403..52880550hg18UCSC Ensembl
Outerchr18:52880288..52880762hg18UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38148
hg19148
hg18148
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8651995
SamplesNA19240
Known GenesLINC-ROR
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3431467
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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