A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6965980



Internal ID9723561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:19403348..19403909hg38UCSC Ensembl
Outerchr13:19977488..19978049hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38562
hg19562
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747055, esv2747051
Supporting Variants
SamplesSSM027
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)essv6965980
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