A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694121



Internal ID15041377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:72299511..72301909hg38UCSC Ensembl
Innerchr3:72300511..72300909hg38UCSC Ensembl
Outerchr3:72298511..72302909hg38UCSC Ensembl
chr3:72348662..72351060hg19UCSC Ensembl
Innerchr3:72349662..72350060hg19UCSC Ensembl
Outerchr3:72347662..72352060hg19UCSC Ensembl
chr3:72431352..72433750hg18UCSC Ensembl
Innerchr3:72432352..72432750hg18UCSC Ensembl
Outerchr3:72430352..72434750hg18UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg382399
hg192399
hg182399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3398374
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694121
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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