A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744178



Internal ID10325148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:19318025..19321917hg38UCSC Ensembl
Outerchr11:19339572..19343464hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg383893
hg193893
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6684929
SamplesSSM034
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)esv2744178
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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