A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6965556



Internal ID10069775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:44378806..44379436hg38UCSC Ensembl
Outerchr11:44400356..44400986hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38631
hg19631
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744414
Supporting Variants
SamplesSSM027
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)essv6965556
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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