A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1002410



Internal ID1842284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:57234836..57240680hg19UCSC Ensembl
Outerchr20:56668242..56674086hg18UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg194294
hg184294
Variant TypeCNV Deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv3564239
SamplesHuRef
Known GenesSTX16, STX16-NPEPL1
Method
Analysis
PlatformSanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1002410
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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