A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8678746



Internal ID15106462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:39289622..39289641hg38UCSC Ensembl
Innerchr3:39289618..39289645hg38UCSC Ensembl
Outerchr3:39289599..39289664hg38UCSC Ensembl
chr3:39331113..39331132hg19UCSC Ensembl
Innerchr3:39331109..39331136hg19UCSC Ensembl
Outerchr3:39331090..39331155hg19UCSC Ensembl
chr3:39306117..39306136hg18UCSC Ensembl
Innerchr3:39306140..39306113hg18UCSC Ensembl
Outerchr3:39306094..39306159hg18UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3425049
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8678746
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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