A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715619



Internal ID9949906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:8810055..8812049hg38UCSC Ensembl
Outerchr17:8713373..8715367hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381995
hg191995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6665764, essv6867956, essv6852214, essv6858203, essv6874127, essv6761418, essv6703128, essv6811121, essv6758646, essv6766135, essv6912474, essv6905516, essv6835507, essv6714832, essv6806851
SamplesSSM013, SSM082, SSM086, SSM006, SSM091, SSM061, SSM089, SSM039, SSM009, SSM029, SSM002, SSM063, SSM087, SSM074, SSM059
Known GenesPIK3R6
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)esv2715619
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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