A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2742147



Internal ID10296263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:74301931..74302172hg38UCSC Ensembl
Outerchr17:72298070..72298311hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38242
hg19242
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv427e201
Supporting Variantsessv6828415
SamplesSSM080
Known GenesDNAI2
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)esv2742147
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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