A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3334973



Internal ID15181963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:113931891..113931902hg38UCSC Ensembl
Innerchr2:113931893..113931900hg38UCSC Ensembl
Outerchr2:113931889..113931904hg38UCSC Ensembl
chr2:114689468..114689479hg19UCSC Ensembl
Innerchr2:114689470..114689477hg19UCSC Ensembl
Outerchr2:114689466..114689481hg19UCSC Ensembl
chr2:114405938..114405949hg18UCSC Ensembl
Innerchr2:114405940..114405947hg18UCSC Ensembl
Outerchr2:114405936..114405951hg18UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7863994
SamplesNA12005
Known GenesACTR3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3334973
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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