A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659177



Internal ID9925282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:67948969..67950768hg38UCSC Ensembl
Outerchr17:67948932..67950818hg38UCSC Ensembl
Innerchr17:65945085..65946884hg19UCSC Ensembl
Outerchr17:65945048..65946934hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg381887
hg191887
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5912129, essv5410807
SamplesNA18977, NA18987
Known GenesBPTF
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659177
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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