A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6795362



Internal ID10197946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:60292444..60292732hg38UCSC Ensembl
Outerchr8:61205003..61205291hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38289
hg19289
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737064
Supporting Variants
SamplesSSM071
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)essv6795362
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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