A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747873



Internal ID10328843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:99477021..99477266hg38UCSC Ensembl
Outerchr13:100129275..100129520hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg38246
hg19246
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6713176, essv6920412, essv6945169, essv6809547, essv6831511, essv6838810
SamplesSSM083, SSM075, SSM042, SSM023, SSM017, SSM081
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)esv2747873
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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