A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6749461



Internal ID10157688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:68308478..68310894hg38UCSC Ensembl
Outerchr10:70068235..70070651hg19UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg382417
hg192417
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738017
Supporting Variants
SamplesSSM056
Known GenesPBLD
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)essv6749461
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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