A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716234



Internal ID9950522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:74814050..74814563hg38UCSC Ensembl
Outerchr17:72810189..72810702hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38514
hg19514
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6843203, essv6816060
SamplesSSM084, SSM077
Known GenesTMEM104
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)esv2716234
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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