A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6787635



Internal ID9846423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:49403518..49403872hg38UCSC Ensembl
Outerchr11:49425070..49425424hg19UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg38355
hg19355
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744485, esv2744501
Supporting Variants
SamplesSSM069
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)essv6787635
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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