A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1006667



Internal ID7071760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:50637956..50645452hg38UCSC Ensembl
Outerchr20:49254493..49261989hg19UCSC Ensembl
Outerchr20:48687900..48695396hg18UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg387497
hg197497
hg187497
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564602
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1006667
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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