A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3446039



Internal ID14946303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:74727518..74729216hg38UCSC Ensembl
Innerchr17:74728216..74728518hg38UCSC Ensembl
Outerchr17:74726518..74730216hg38UCSC Ensembl
chr17:72723657..72725355hg19UCSC Ensembl
Innerchr17:72724355..72724657hg19UCSC Ensembl
Outerchr17:72722657..72726355hg19UCSC Ensembl
chr17:70235252..70236950hg18UCSC Ensembl
Innerchr17:70236252..70235950hg18UCSC Ensembl
Outerchr17:70234252..70237950hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1815e59
Supporting Variantsessv8691024
SamplesNA19239
Known GenesRAB37
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3446039
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