A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658276



Internal ID9577695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8925204..8925533hg38UCSC Ensembl
chr17:8828521..8828850hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6233073, essv6579015, essv5736797, essv6394816, essv5695814
SamplesNA18523, NA19236, NA19235, NA19225, NA19371
Known GenesPIK3R5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658276
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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