A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3563490



Internal ID6688845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:78534371..78537651hg38UCSC Ensembl
Outerchr17:76530453..76533733hg19UCSC Ensembl
Outerchr17:74042048..74045328hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg383281
hg193281
hg183281
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv997097
Supporting Variants
SamplesHuRef
Known GenesDNAH17
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3563490
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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