A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9762010



Internal ID18736256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:2800981..2801060hg38UCSC Ensembl
chr4:2802708..2802787hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3563263
Supporting Variants
Samples
Known GenesSH3BP2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9762010
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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