A curated catalogue of human genomic structural variation




Variant Details

Variant: esv997097



Internal ID6733039
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 Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563490
SamplesHuRef
Known GenesDNAH17
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv997097
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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