A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7804005



Internal ID15005848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:190300320..190300321hg38UCSC Ensembl
Innerchr3:190300302..190300339hg38UCSC Ensembl
Outerchr3:190300301..190300340hg38UCSC Ensembl
chr3:190018109..190018110hg19UCSC Ensembl
Innerchr3:190018091..190018128hg19UCSC Ensembl
Outerchr3:190018090..190018129hg19UCSC Ensembl
chr3:191500803..191500804hg18UCSC Ensembl
Innerchr3:191500822..191500785hg18UCSC Ensembl
Outerchr3:191500784..191500823hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg38302
hg19302
hg18302
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3304010
Supporting Variants
SamplesNA19225
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7804005
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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