A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733029



Internal ID10316665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:11893068..11893420hg38UCSC Ensembl
Outerchr10:11935067..11935419hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg38353
hg19353
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6681273, essv6923970, essv6668036, essv6827352, essv6695175, essv6944530
SamplesSSM023, SSM018, SSM033, SSM080, SSM037, SSM030
Known GenesPROSER2-AS1
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)esv2733029
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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