A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6887550



Internal ID10282453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:107368504..107368838hg38UCSC Ensembl
Outerchr8:108380732..108381066hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg38335
hg19335
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737411, esv2737410
Supporting Variants
SamplesSSM096
Known GenesANGPT1
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)essv6887550
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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