A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6672925



Internal ID9743840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:45102142..45102196hg38UCSC Ensembl
Outerchr11:45123693..45123747hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744422, esv2744426, esv2744425
Supporting Variants
SamplesSSM031
Known GenesPRDM11
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)essv6672925
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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