A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6819558



Internal ID9872522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:63146465..63268815hg38UCSC Ensembl
Outerchr11:62913937..63036287hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg38122351
hg19122351
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744609
Supporting Variants
SamplesSSM078
Known GenesMIR3680-1, MIR3680-2, SLC22A25
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)essv6819558
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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