A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6725218



Internal ID9789492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:78508923..78509171hg38UCSC Ensembl
Outerchr17:76505005..76505253hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38249
hg19249
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716314
Supporting Variants
SamplesSSM045
Known GenesDNAH17
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6725218
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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