A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6970452



Internal ID9728075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:44866340..44866707hg38UCSC Ensembl
Outerchr10:45361788..45362155hg19UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38368
hg19368
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736072
Supporting Variants
SamplesSSM028
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)essv6970452
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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