A curated catalogue of human genomic structural variation




Variant Details

Variant: esv999120



Internal ID6735050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:86724937..86731861hg38UCSC Ensembl
Outerchr4:87646090..87653014hg19UCSC Ensembl
Outerchr4:87865114..87872038hg18UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg386925
hg196925
hg186925
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564881
SamplesHuRef
Known GenesPTPN13
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv999120
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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