A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6695387



Internal ID10108819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:31405917..31408735hg38UCSC Ensembl
Outerchr11:31427464..31430282hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg382819
hg192819
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744312
Supporting Variants
SamplesSSM037
Known GenesDNAJC24
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)essv6695387
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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