A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8671184



Internal ID14755016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:150754211..150754264hg38UCSC Ensembl
Innerchr4:150754220..150754252hg38UCSC Ensembl
Outerchr4:150754199..150754273hg38UCSC Ensembl
chr4:151675363..151675416hg19UCSC Ensembl
Innerchr4:151675372..151675404hg19UCSC Ensembl
Outerchr4:151675351..151675425hg19UCSC Ensembl
chr4:151894813..151894866hg18UCSC Ensembl
Innerchr4:151894822..151894854hg18UCSC Ensembl
Outerchr4:151894801..151894875hg18UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3407753
Supporting Variants
SamplesNA19240
Known GenesLRBA
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8671184
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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