A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716097



Internal ID10299733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:63788395..63789703hg38UCSC Ensembl
Outerchr17:61865755..61867063hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg381309
hg191309
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6824327
SamplesSSM079
Known GenesDDX42
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)esv2716097
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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