A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8651995



Internal ID14754364
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 Flag1
Merged StatusS
Merged Variantsesv3431467
Supporting Variants
SamplesNA19240
Known GenesLINC-ROR
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8651995
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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