A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564100



Internal ID7035200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:59133598..59141635hg38UCSC Ensembl
Outerchr17:57210959..57218996hg19UCSC Ensembl
Outerchr17:54565741..54573778hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg388038
hg198038
hg188038
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv990139
Supporting Variants
SamplesHuRef
Known GenesMIR454, SKA2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564100
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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