A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3412264



Internal ID15259223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:94009326..94009332hg38UCSC Ensembl
Innerchr3:94009328..94009330hg38UCSC Ensembl
Outerchr3:94009324..94009334hg38UCSC Ensembl
chr3:93728170..93728176hg19UCSC Ensembl
Innerchr3:93728172..93728174hg19UCSC Ensembl
Outerchr3:93728168..93728178hg19UCSC Ensembl
chr3:95210860..95210866hg18UCSC Ensembl
Innerchr3:95210862..95210864hg18UCSC Ensembl
Outerchr3:95210858..95210868hg18UCSC Ensembl
Cytoband3q11.1
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864160
SamplesNA12005
Known GenesARL13B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3412264
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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