A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6691089



Internal ID10104180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:91827850..91828295hg38UCSC Ensembl
Outerchr8:92840078..92840523hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38446
hg19446
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737297, esv2737295
Supporting Variants
SamplesSSM036
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)essv6691089
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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