A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5484595



Internal ID8461998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:60334536..60336560hg38UCSC Ensembl
chr17:58411897..58413921hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg382025
hg192025
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2665214
Supporting Variants
SamplesNA19471
Known GenesUSP32
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5484595
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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