A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6970431



Internal ID9728094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:18214181..18214644hg38UCSC Ensembl
Outerchr10:18503110..18503573hg19UCSC Ensembl
Cytoband10p12.33
Allele length
AssemblyAllele length
hg38464
hg19464
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2733695
Supporting Variants
SamplesSSM028
Known GenesCACNB2
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)essv6970431
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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