A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2729838



Internal ID10313474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:16624094..16624499hg38UCSC Ensembl
Outerchr5:16624203..16624608hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg38406
hg19406
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6869499, essv6722995, essv6922811, essv6781962, essv6786132, essv6918500, essv6777929, essv6770547, essv6893258, essv6844701, essv6938746, essv6700760, essv6903496, essv6854829, essv6878412, essv6670717, essv6956569, essv6969104, essv6790268, essv6711611
SamplesSSM045, SSM065, SSM087, SSM039, SSM013, SSM093, SSM042, SSM028, SSM090, SSM018, SSM069, SSM026, SSM017, SSM031, SSM067, SSM085, SSM068, SSM022, SSM070, SSM098
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)esv2729838
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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