A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744615



Internal ID9978899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:64270674..64271351hg38UCSC Ensembl
Outerchr11:64038146..64038823hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38678
hg19678
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6804732, essv6834009
SamplesSSM010, SSM009
Known GenesBAD
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)esv2744615
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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