A curated catalogue of human genomic structural variation




Variant Details

Variant: esv995054



Internal ID6731004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:177044933..177047383hg38UCSC Ensembl
Outerchr5:176471934..176474384hg19UCSC Ensembl
Outerchr5:176404540..176406990hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg382451
hg192451
hg182451
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565424
SamplesHuRef
Known GenesZNF346
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv995054
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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