A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678000



Internal ID9597419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:38791559..38793053hg38UCSC Ensembl
Outerchr17:38791522..38793103hg38UCSC Ensembl
Innerchr17:36947812..36949306hg19UCSC Ensembl
Outerchr17:36947775..36949356hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg381582
hg191582
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5886842
SamplesNA20813
Known GenesPIP4K2B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678000
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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