A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2729666



Internal ID10313302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:4944466..4945344hg38UCSC Ensembl
Outerchr5:4944579..4945457hg19UCSC Ensembl
Cytoband5p15.32
Allele length
AssemblyAllele length
hg38879
hg19879
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6700746, essv6918486, essv6848682, essv6676277, essv6934417, essv6790257, essv6770532, essv6956542, essv6926571, essv6774369, essv6822205, essv6885720, essv6969087, essv6922798, essv6680161, essv6854805, essv6777918
SamplesSSM079, SSM065, SSM087, SSM039, SSM028, SSM021, SSM018, SSM026, SSM017, SSM019, SSM032, SSM067, SSM086, SSM033, SSM066, SSM070, SSM012
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)esv2729666
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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