A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6931135



Internal ID10040258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:30746503..30748034hg38UCSC Ensembl
Outerchr8:30604020..30605551hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg381532
hg191532
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736833
Supporting Variants
SamplesSSM020
Known GenesUBXN8
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)essv6931135
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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