A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668980



Internal ID9588399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8829321..8829546hg38UCSC Ensembl
chr17:8732638..8732863hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38226
hg19226
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv534e199
Supporting Variantsessv6069855, essv6532615, essv6540209, essv6039626, essv5713593
SamplesNA19393, NA19436, NA19401, NA20276, NA19328
Known GenesPIK3R6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668980
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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