A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565701



Internal ID6690397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:177130035..177141113hg38UCSC Ensembl
Outerchr5:176557036..176568114hg19UCSC Ensembl
Outerchr5:176489642..176500720hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3811079
hg1911079
hg1811079
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1011107
Supporting Variants
SamplesHuRef
Known GenesNSD1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565701
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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