A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6771465



Internal ID10177801
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 StatusS
Merged Variantsesv2737182
Supporting Variants
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)essv6771465
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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