A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6792594



Internal ID10196236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:58331611..58332014hg38UCSC Ensembl
Outerchr17:56408972..56409375hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38404
hg19404
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716078
Supporting Variants
SamplesSSM070
Known GenesBZRAP1-AS1
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)essv6792594
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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