A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6768346



Internal ID9827639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:980098..980510hg38UCSC Ensembl
Outerchr11:980098..980510hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38413
hg19413
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2743881, esv2743878
Supporting Variants
SamplesSSM064
Known GenesAP2A2
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)essv6768346
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