A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715952



Internal ID3266448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:43118842..43123551hg38UCSC Ensembl
Outerchr17:41270859..41275568hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg384710
hg194710
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6912696
SamplesSSM002
Known GenesBRCA1
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)esv2715952
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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