A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730883



Internal ID9965200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:147015143..147017744hg38UCSC Ensembl
Outerchr5:146394706..146397307hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg382602
hg192602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6751463, essv6814186, essv6951724, essv6918593, essv6872606, essv6922906, essv6790358, essv6848882, essv6963464, essv6759892, essv6860629, essv6854992, essv6896649, essv6700885, essv6872930, essv6764888
SamplesSSM027, SSM086, SSM091, SSM061, SSM099, SSM088, SSM025, SSM057, SSM039, SSM077, SSM017, SSM002, SSM063, SSM087, SSM018, SSM070
Known GenesPPP2R2B
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)esv2730883
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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