A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564069



Internal ID6688452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:3617989..3627334hg38UCSC Ensembl
Outerchr17:3521283..3530628hg19UCSC Ensembl
Outerchr17:3468032..3477377hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg389346
hg199346
hg189346
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv997341
Supporting Variants
SamplesHuRef
Known GenesSHPK
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564069
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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