A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3325299



Internal ID15172280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:27037885..27037885hg38UCSC Ensembl
Innerchr17:27037883..27037887hg38UCSC Ensembl
Outerchr17:27037883..27037887hg38UCSC Ensembl
chr17:25364911..25364911hg19UCSC Ensembl
Innerchr17:25364909..25364913hg19UCSC Ensembl
Outerchr17:25364909..25364913hg19UCSC Ensembl
chr17:22389038..22389038hg18UCSC Ensembl
Innerchr17:22389040..22389036hg18UCSC Ensembl
Outerchr17:22389036..22389040hg18UCSC Ensembl
Cytoband17q11.1
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865967, essv7865966
SamplesNA12005, NA18516
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3325299
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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