A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6741624



Internal ID9804643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:39466174..39466465hg38UCSC Ensembl
Outerchr17:37622427..37622718hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38292
hg19292
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715901
Supporting Variants
SamplesSSM052
Known GenesCDK12
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)essv6741624
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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