A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748335



Internal ID10329305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113583594..113584399hg38UCSC Ensembl
Outerchr13:114237909..114238714hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38806
hg19806
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6846135, essv6940587, essv6966193, essv6779684, essv6806557, essv6768681
SamplesSSM027, SSM064, SSM074, SSM067, SSM085, SSM022
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)esv2748335
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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