A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744648



Internal ID9978932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:67670002..67670282hg38UCSC Ensembl
Outerchr11:67437473..67437753hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6724396, essv6706110, essv6976950, essv6887922, essv6758150, essv6791749, essv6959090, essv6720580
SamplesSSM040, SSM045, SSM029, SSM096, SSM044, SSM026, SSM059, SSM070
Known GenesALDH3B2
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)esv2744648
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