A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6840035



Internal ID10239514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:86615925..86636106hg38UCSC Ensembl
Outerchr1:87081608..87101789hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg3820182
hg1920182
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714407
Supporting Variants
SamplesSSM084
Known GenesCLCA3P
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)essv6840035
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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