A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640918



Internal ID6681003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:60051687..60097368hg38UCSC Ensembl
chr17:58129048..58174729hg19UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg3845682
hg1945682
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15714807, essv15714808
SamplesHG01971, HG01968
Known GenesHEATR6, LOC645638
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640918
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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