A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2741346



Internal ID10295462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:942707..943003hg38UCSC Ensembl
Outerchr17:845947..846243hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38297
hg19297
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv396e201
Supporting Variantsessv6738317
SamplesSSM050
Known GenesNXN
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)esv2741346
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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