A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305513



Internal ID15152461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:37512973..37512974hg38UCSC Ensembl
Innerchr17:37512951..37512996hg38UCSC Ensembl
Outerchr17:37512950..37512997hg38UCSC Ensembl
chr17:35873075..35873076hg19UCSC Ensembl
Innerchr17:35873053..35873098hg19UCSC Ensembl
Outerchr17:35873052..35873099hg19UCSC Ensembl
chr17:32947188..32947189hg18UCSC Ensembl
Innerchr17:32947211..32947166hg18UCSC Ensembl
Outerchr17:32947165..32947212hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38647
hg19647
hg18647
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7766188
SamplesNA12873
Known GenesDUSP14
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305513
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer