A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3343248



Internal ID15190233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49141415..49142313hg38UCSC Ensembl
Innerchr3:49141414..49142314hg38UCSC Ensembl
Outerchr3:49140415..49143313hg38UCSC Ensembl
chr3:49178848..49179746hg19UCSC Ensembl
Innerchr3:49178847..49179747hg19UCSC Ensembl
Outerchr3:49177848..49180746hg19UCSC Ensembl
chr3:49153852..49154750hg18UCSC Ensembl
Innerchr3:49154751..49153851hg18UCSC Ensembl
Outerchr3:49152852..49155750hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38899
hg19899
hg18899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694090
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3343248
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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