A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693815



Internal ID14692429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:122799115..122802113hg38UCSC Ensembl
Innerchr3:122800115..122801113hg38UCSC Ensembl
Outerchr3:122798115..122803113hg38UCSC Ensembl
chr3:122517962..122520960hg19UCSC Ensembl
Innerchr3:122518962..122519960hg19UCSC Ensembl
Outerchr3:122516962..122521960hg19UCSC Ensembl
chr3:124000652..124003650hg18UCSC Ensembl
Innerchr3:124001652..124002650hg18UCSC Ensembl
Outerchr3:123999652..124004650hg18UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg382999
hg192999
hg182999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3400727
Supporting Variants
SamplesNA19239
Known GenesDIRC2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693815
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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