A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715587



Internal ID10299223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:6519113..6519452hg38UCSC Ensembl
Outerchr17:6422433..6422772hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38340
hg19340
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6665754, essv6905513, essv6912441, essv6738329, essv6936892, essv6928481, essv6820423
SamplesSSM013, SSM050, SSM002, SSM021, SSM029, SSM019, SSM078
Known GenesPITPNM3
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)esv2715587
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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