A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6746575



Internal ID9808260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:18540887..18541312hg38UCSC Ensembl
Outerchr10:18829816..18830241hg19UCSC Ensembl
Cytoband10p12.31
Allele length
AssemblyAllele length
hg38426
hg19426
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2733728
Supporting Variants
SamplesSSM055
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)essv6746575
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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