A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656928



Internal ID9576347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8808327..8810674hg38UCSC Ensembl
chr17:8711645..8713992hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg382348
hg192348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6076771, essv6248952, essv6019952, essv5557648
SamplesHG00463, HG00421, NA18635, NA18599
Known GenesPIK3R6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656928
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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