A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616492



Internal ID6656688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:17598147..17735569hg38UCSC Ensembl
chr8:17455656..17593078hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38137423
hg19137423
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13128827, essv13128828, essv13128830, essv13128829
SamplesNA19720, NA19012, NA19747, NA19661
Known GenesMTUS1, PDGFRL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616492
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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