A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3064921



Internal ID11084587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:7890988..7891038hg38UCSC Ensembl
chr5:7891101..7891151hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7334488
SamplesHuRef
Known GenesMTRR
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)esv3064921
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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