A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747054



Internal ID9981338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:19353339..19353766hg38UCSC Ensembl
Outerchr13:19927479..19927906hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38428
hg19428
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6812301, essv6949201, essv6977429, essv6879566, essv6791969, essv6900410, essv6724613
SamplesSSM024, SSM045, SSM093, SSM029, SSM076, 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)esv2747054
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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