A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1000107



Internal ID7065242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:45951002..45957693hg38UCSC Ensembl
Outerchr20:44579641..44586332hg19UCSC Ensembl
Outerchr20:44013048..44019739hg18UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg386692
hg196692
hg186692
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563896
SamplesHuRef
Known GenesZNF335
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1000107
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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