A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8653321



Internal ID13324054
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 Flag1
Merged StatusS
Merged Variantsesv3407171
Supporting Variants
SamplesNA12878
Known GenesAMT
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8653321
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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