A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663813



Internal ID9583232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:60780582..60790916hg38UCSC Ensembl
Outerchr17:60780425..60791069hg38UCSC Ensembl
Innerchr17:58857943..58868277hg19UCSC Ensembl
Outerchr17:58857786..58868430hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg3810645
hg1910645
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5797886, essv5894855
SamplesNA20770, NA12273
Known GenesBCAS3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663813
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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