A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2741019



Internal ID10295135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:82972364..82972765hg38UCSC Ensembl
Outerchr17:80930240..80930641hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38402
hg19402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6703238
SamplesSSM039
Known GenesB3GNTL1
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)esv2741019
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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