A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6873796



Internal ID9923214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:45677971..45679426hg38UCSC Ensembl
Outerchr13:46252106..46253561hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg381456
hg191456
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747351, esv2747343, esv2747347
Supporting Variants
SamplesSSM091
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)essv6873796
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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