A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737059



Internal ID10320695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:60012885..60012989hg38UCSC Ensembl
Outerchr8:60925444..60925548hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6958153, essv6850181
SamplesSSM026, SSM086
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)esv2737059
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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