A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736976



Internal ID10320612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:48192602..48192976hg38UCSC Ensembl
Outerchr8:49105162..49105536hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38375
hg19375
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6944194, essv6911966
SamplesSSM023, SSM015
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)esv2736976
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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