A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3418442



Internal ID15265400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:161429063..161429075hg38UCSC Ensembl
Innerchr3:161429065..161429073hg38UCSC Ensembl
Outerchr3:161429061..161429077hg38UCSC Ensembl
chr3:161146851..161146863hg19UCSC Ensembl
Innerchr3:161146853..161146861hg19UCSC Ensembl
Outerchr3:161146849..161146865hg19UCSC Ensembl
chr3:162629545..162629557hg18UCSC Ensembl
Innerchr3:162629547..162629555hg18UCSC Ensembl
Outerchr3:162629543..162629559hg18UCSC Ensembl
Cytoband3q26.1
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864210
SamplesNA12005
Known GenesLOC101243545
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3418442
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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