A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6923725



Internal ID10033030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:130838514..130840476hg38UCSC Ensembl
Outerchr8:131850760..131852722hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg381963
hg191963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737587
Supporting Variants
SamplesSSM018
Known GenesADCY8
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)essv6923725
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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