A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3407171



Internal ID14907447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49421166..49421166hg38UCSC Ensembl
Innerchr3:49421165..49421167hg38UCSC Ensembl
Outerchr3:49421116..49421216hg38UCSC Ensembl
chr3:49458599..49458599hg19UCSC Ensembl
Innerchr3:49458598..49458600hg19UCSC Ensembl
Outerchr3:49458549..49458649hg19UCSC Ensembl
chr3:49433603..49433603hg18UCSC Ensembl
Innerchr3:49433604..49433602hg18UCSC Ensembl
Outerchr3:49433553..49433653hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38559
hg19559
hg18559
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8653322, essv8653321, essv8653320
SamplesNA12891, NA12878, NA12892
Known GenesAMT
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3407171
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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