A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2729839



Internal ID10313475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:16624253..16624441hg38UCSC Ensembl
Outerchr5:16624362..16624550hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg38189
hg19189
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6869499, essv6722995, essv6786132, essv6854829, essv6878412, essv6670717, essv6956569, essv6711611
SamplesSSM045, SSM087, SSM093, SSM042, SSM090, SSM069, SSM026, SSM031
Known Genes
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)esv2729839
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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