A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6701853



Internal ID9768693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:141497090..141497248hg38UCSC Ensembl
Outerchr8:142507190..142507348hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38159
hg19159
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737793, esv2737794, esv2737756
Supporting Variants
SamplesSSM039
Known GenesMROH5
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)essv6701853
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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