A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744924



Internal ID10325894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:93844834..93845045hg38UCSC Ensembl
Outerchr11:93578000..93578211hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg38212
hg19212
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6965645, essv6908769, essv6862274, essv6867024, essv6851035, essv6673017, essv6819587, essv6864953
SamplesSSM027, SSM011, SSM088, SSM089, SSM031, SSM014, SSM086, SSM078
Known GenesVSTM5
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)esv2744924
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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