A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693817



Internal ID15039091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:125010418..125013416hg38UCSC Ensembl
Innerchr3:125011418..125012416hg38UCSC Ensembl
Outerchr3:125009418..125014416hg38UCSC Ensembl
chr3:124729262..124732260hg19UCSC Ensembl
Innerchr3:124730262..124731260hg19UCSC Ensembl
Outerchr3:124728262..124733260hg19UCSC Ensembl
chr3:126211952..126214950hg18UCSC Ensembl
Innerchr3:126212952..126213950hg18UCSC Ensembl
Outerchr3:126210952..126215950hg18UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg382999
hg192999
hg182999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3353884
Supporting Variants
SamplesNA19239
Known GenesHEG1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693817
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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