A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3363833



Internal ID15210811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:812462..813060hg38UCSC Ensembl
Innerchr17:812461..813061hg38UCSC Ensembl
Outerchr17:811462..814060hg38UCSC Ensembl
chr17:715702..716300hg19UCSC Ensembl
Innerchr17:715701..716301hg19UCSC Ensembl
Outerchr17:714702..717300hg19UCSC Ensembl
chr17:662452..663050hg18UCSC Ensembl
Innerchr17:663051..662451hg18UCSC Ensembl
Outerchr17:661452..664050hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38599
hg19599
hg18599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1676e59
Supporting Variantsessv8690994
SamplesNA19240
Known GenesNXN
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3363833
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