A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6940149



Internal ID10047707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:15596030..15596200hg38UCSC Ensembl
Outerchr11:15617576..15617746hg19UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg38171
hg19171
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744131, esv2744132
Supporting Variants
SamplesSSM022
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)essv6940149
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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