A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715701



Internal ID10299337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:15729655..15774080hg38UCSC Ensembl
Outerchr17:15632969..15677394hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3844426
hg1944426
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6944228, essv6920911
SamplesSSM017, SSM003
Known GenesCDRT15P2, TBC1D26
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)esv2715701
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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