A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737546



Internal ID9971885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:125468102..125468520hg38UCSC Ensembl
Outerchr8:126480344..126480762hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38419
hg19419
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6712498, essv6976071, essv6778884, essv6791246, essv6931205, essv6694922, essv6850273
SamplesSSM042, SSM029, SSM067, SSM086, SSM020, SSM037, SSM070
Known Genes
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)esv2737546
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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