A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6851571



Internal ID10249896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:112845251..112845754hg38UCSC Ensembl
Outerchr13:113499565..113500068hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38504
hg19504
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748198, esv2748200
Supporting Variants
SamplesSSM086
Known GenesATP11A
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)essv6851571
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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