A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6804421



Internal ID10003026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:28985598..28991328hg38UCSC Ensembl
Outerchr11:29007145..29012875hg19UCSC Ensembl
Cytoband11p14.1
Allele length
AssemblyAllele length
hg385731
hg195731
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744303
Supporting Variants
SamplesSSM009
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)essv6804421
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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