A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640828



Internal ID6680914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:54782906..54915079hg38UCSC Ensembl
chr17:52860267..52992440hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38132174
hg19132174
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15702239
SamplesNA20903
Known GenesTOM1L1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640828
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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