A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3050540



Internal ID10723521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:47485808..47485860hg38UCSC Ensembl
chr4:47487825..47487877hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7320107
SamplesHuRef
Known GenesATP10D
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)esv3050540
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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