A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6769031



Internal ID9654303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:44866179..44866794hg38UCSC Ensembl
Outerchr10:45361627..45362242hg19UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38616
hg19616
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736072
Supporting Variants
SamplesSSM008
Known GenesTMEM72-AS1
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)essv6769031
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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