A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3544205



Internal ID18745281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:130307201..130307258hg38UCSC Ensembl
chr8:131319447..131319504hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9742952
Samples
Known GenesASAP1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3544205
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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