A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694123



Internal ID15079488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:72533311..72534609hg38UCSC Ensembl
Innerchr3:72533609..72534311hg38UCSC Ensembl
Outerchr3:72532311..72535609hg38UCSC Ensembl
chr3:72582462..72583760hg19UCSC Ensembl
Innerchr3:72582760..72583462hg19UCSC Ensembl
Outerchr3:72581462..72584760hg19UCSC Ensembl
chr3:72665152..72666450hg18UCSC Ensembl
Innerchr3:72666152..72665450hg18UCSC Ensembl
Outerchr3:72664152..72667450hg18UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3413861
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694123
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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