A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6912061



Internal ID9675607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:144278883..144279371hg38UCSC Ensembl
Outerchr8:145502916..145503404hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38489
hg19489
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738057
Supporting Variants
SamplesSSM015
Known GenesBOP1
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)essv6912061
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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