A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6728194



Internal ID10138856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:42134641..42134908hg38UCSC Ensembl
Outerchr11:42156191..42156458hg19UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744402
Supporting Variants
SamplesSSM046
Known Genes
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)essv6728194
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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