A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1002410



Internal ID28113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:58659780..58665624hg38UCSC Ensembl
Outerchr20:57234836..57240680hg19UCSC Ensembl
Outerchr20:56668242..56674086hg18UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg385845
hg195845
hg185845
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564239
SamplesHuRef
Known GenesSTX16, STX16-NPEPL1
MethodSequencing
Analysis
PlatformSanger Sequencing
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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