A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737076



Internal ID10320712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:61052465..61052787hg38UCSC Ensembl
Outerchr8:61965024..61965346hg19UCSC Ensembl
Cytoband8q12.2
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1210e201
Supporting Variantsessv6768035, essv6931160, essv6850183, essv6856218
SamplesSSM064, SSM087, SSM086, SSM020
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)esv2737076
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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