A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716101



Internal ID10299737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:63911686..63919371hg38UCSC Ensembl
Outerchr17:61989046..61996731hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg387686
hg197686
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6732862
SamplesSSM047
Known GenesGH1
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)esv2716101
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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