A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6806128



Internal ID9861406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:13345083..13347990hg38UCSC Ensembl
Outerchr10:13387083..13389990hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg382908
hg192908
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2733384
Supporting Variants
SamplesSSM074
Known GenesSEPHS1
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)essv6806128
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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