A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693858



Internal ID15039427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:141332720..141334218hg38UCSC Ensembl
Innerchr3:141333218..141333720hg38UCSC Ensembl
Outerchr3:141331720..141335218hg38UCSC Ensembl
chr3:141051562..141053060hg19UCSC Ensembl
Innerchr3:141052060..141052562hg19UCSC Ensembl
Outerchr3:141050562..141054060hg19UCSC Ensembl
chr3:142534252..142535750hg18UCSC Ensembl
Innerchr3:142535252..142534750hg18UCSC Ensembl
Outerchr3:142533252..142536750hg18UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3365800
Supporting Variants
SamplesNA19239
Known GenesZBTB38
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693858
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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