A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737182



Internal ID10320818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:75030523..75030951hg38UCSC Ensembl
Outerchr8:75942758..75943186hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg38429
hg19429
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6771465
SamplesSSM065
Known GenesCRISPLD1
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)esv2737182
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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