A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747992



Internal ID10328962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:109665644..109666218hg38UCSC Ensembl
Outerchr13:110317991..110318565hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38575
hg19575
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6945179, essv6732333, essv6851549, essv6912815, essv6977625, essv6702671, essv6717007, essv6831523, essv6740020, essv6901232, essv6774220, essv6747004, essv6792058, essv6678027, essv6681794, essv6949300
SamplesSSM008, SSM024, SSM039, SSM023, SSM047, SSM029, SSM032, SSM086, SSM033, SSM081, SSM007, SSM015, SSM055, SSM070, SSM043, 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)esv2747992
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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