A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6819629



Internal ID9872586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:125426574..125426648hg38UCSC Ensembl
Outerchr11:125296470..125296544hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745198, esv2745202, esv2745201, esv2745203
Supporting Variants
SamplesSSM078
Known GenesPKNOX2
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)essv6819629
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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