A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657464



Internal ID9923569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:67421401..67425231hg38UCSC Ensembl
Outerchr17:67421364..67425281hg38UCSC Ensembl
Innerchr17:65417517..65421347hg19UCSC Ensembl
Outerchr17:65417480..65421397hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg383918
hg193918
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5468477
SamplesHG00138
Known GenesPITPNC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657464
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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