A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669787



Internal ID9589206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:38939144..38941247hg38UCSC Ensembl
Outerchr17:38939107..38941297hg38UCSC Ensembl
Innerchr17:37095397..37097500hg19UCSC Ensembl
Outerchr17:37095360..37097550hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg382191
hg192191
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5542652
SamplesHG01108
Known GenesFBXO47
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669787
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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