A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744565



Internal ID10325535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:59631266..59631701hg38UCSC Ensembl
Outerchr11:59398739..59399174hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg38436
hg19436
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6823525, essv6743934, essv6912472, essv6760877, essv6737431, essv6897571, essv6857017, essv6965597
SamplesSSM027, SSM079, SSM087, SSM061, SSM007, SSM015, SSM053, SSM099
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)esv2744565
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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