A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736837



Internal ID10320473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:30984119..30984681hg38UCSC Ensembl
Outerchr8:30841635..30842197hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38563
hg19563
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1203e201
Supporting Variantsessv6861584, essv6752085, essv6904322, essv6856172
SamplesSSM087, SSM013, SSM088, SSM057
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)esv2736837
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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