A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8915296



Internal ID14473165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:122726895..122726905hg38UCSC Ensembl
Innerchr3:122726887..122726913hg38UCSC Ensembl
Outerchr3:122726877..122726921hg38UCSC Ensembl
chr3:122445742..122445752hg19UCSC Ensembl
Innerchr3:122445734..122445760hg19UCSC Ensembl
Outerchr3:122445724..122445768hg19UCSC Ensembl
chr3:123928432..123928442hg18UCSC Ensembl
Innerchr3:123928450..123928424hg18UCSC Ensembl
Outerchr3:123928414..123928458hg18UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38283
hg19283
hg18283
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3370677
Supporting Variants
SamplesNA18942
Known GenesPARP14
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8915296
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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