A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1007546



Internal ID6719659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:21302105..21308184hg38UCSC Ensembl
Outerchr20:21282743..21288822hg19UCSC Ensembl
Outerchr20:21230743..21236822hg18UCSC Ensembl
Cytoband20p11.22
Allele length
AssemblyAllele length
hg386080
hg196080
hg186080
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565366
SamplesHuRef
Known GenesXRN2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1007546
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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