A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737161



Internal ID9971497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:73149018..73149310hg38UCSC Ensembl
Outerchr8:74061253..74061545hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6727750, essv6799567, essv6827070, essv6850197, essv6931165
SamplesSSM046, SSM086, SSM072, SSM020, SSM080
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)esv2737161
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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