A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6829016



Internal ID9882911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:23854604..23863108hg38UCSC Ensembl
Outerchr1:24181094..24189598hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg388505
hg198505
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745352
Supporting Variants
SamplesSSM081
Known GenesFUCA1
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)essv6829016
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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