A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6838038



Internal ID10237905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:61033327..61033499hg38UCSC Ensembl
Outerchr8:61945886..61946058hg19UCSC Ensembl
Cytoband8q12.2
Allele length
AssemblyAllele length
hg38173
hg19173
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737070, esv2737069, esv2737072
Supporting Variants
SamplesSSM083
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)essv6838038
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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