A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5886842



Internal ID8864246
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 Flag1
Merged StatusS
Merged Variantsesv2678000
Supporting Variants
SamplesNA20813
Known GenesPIP4K2B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5886842
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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