A curated catalogue of human genomic structural variation




Variant Details

Variant: esv990338



Internal ID6726305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:47202385..47210029hg38UCSC Ensembl
Outerchr20:45831029..45838674hg19UCSC Ensembl
Outerchr20:45264436..45272081hg18UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg387645
hg197646
hg187646
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564524
SamplesHuRef
Known GenesZMYND8
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv990338
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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