A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6866397



Internal ID10263238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:107368459..107368706hg38UCSC Ensembl
Outerchr8:108380687..108380934hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg38248
hg19248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737411, esv2737410
Supporting Variants
SamplesSSM089
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)essv6866397
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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