A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748099



Internal ID10329069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:111687978..111688157hg38UCSC Ensembl
Outerchr13:112340325..112340504hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38180
hg19180
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6882492, essv6747014, essv6796246, essv6888164
SamplesSSM071, SSM096, SSM094, SSM055
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)esv2748099
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer