A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6720622



Internal ID9784281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:114554197..114561200hg38UCSC Ensembl
Outerchr11:114424919..114431922hg19UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg387004
hg197004
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745098
Supporting Variants
SamplesSSM044
Known GenesNXPE1
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)essv6720622
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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