A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6860120



Internal ID10009943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:2054966..2055090hg38UCSC Ensembl
Outerchr8:2003084..2003208hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736370, esv2736369, esv2736368
Supporting Variants
SamplesSSM011
Known GenesMYOM2
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)essv6860120
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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