A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8653354



Internal ID15030402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:72088100..72088100hg38UCSC Ensembl
Innerchr3:72088099..72088101hg38UCSC Ensembl
Outerchr3:72088050..72088150hg38UCSC Ensembl
chr3:72137251..72137251hg19UCSC Ensembl
Innerchr3:72137250..72137252hg19UCSC Ensembl
Outerchr3:72137201..72137301hg19UCSC Ensembl
chr3:72219941..72219941hg18UCSC Ensembl
Innerchr3:72219942..72219940hg18UCSC Ensembl
Outerchr3:72219891..72219991hg18UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg381883
hg191883
hg181883
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3347640
Supporting Variants
SamplesNA19238
Known GenesLINC00877
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8653354
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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