A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694084



Internal ID13692608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:47210858..47215856hg38UCSC Ensembl
Innerchr3:47211858..47214856hg38UCSC Ensembl
Outerchr3:47209858..47216856hg38UCSC Ensembl
chr3:47252348..47257346hg19UCSC Ensembl
Innerchr3:47253348..47256346hg19UCSC Ensembl
Outerchr3:47251348..47258346hg19UCSC Ensembl
chr3:47227352..47232350hg18UCSC Ensembl
Innerchr3:47228352..47231350hg18UCSC Ensembl
Outerchr3:47226352..47233350hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg384999
hg194999
hg184999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3425791
Supporting Variants
SamplesNA12891
Known GenesKIF9-AS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694084
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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