A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565439



Internal ID6690135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:47941862..47952091hg38UCSC Ensembl
Outerchr17:46019228..46029457hg19UCSC Ensembl
Outerchr17:43374227..43384456hg18UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3810230
hg1910230
hg1810230
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1000014
Supporting Variants
SamplesHuRef
Known GenesPNPO, PRR15L
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565439
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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