A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564600



Internal ID6689296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:78393244..78402755hg38UCSC Ensembl
Outerchr17:76389325..76398836hg19UCSC Ensembl
Outerchr17:73900920..73910431hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg389512
hg199512
hg189512
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1002451
Supporting Variants
SamplesHuRef
Known GenesPGS1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564600
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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