A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5452197



Internal ID8429600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8810045..8811944hg38UCSC Ensembl
chr17:8713363..8715262hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381900
hg191900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2677297
Supporting Variants
SamplesHG00534
Known GenesPIK3R6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5452197
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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