A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6830904



Internal ID9884609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:98949458..98966688hg38UCSC Ensembl
Outerchr9:101711740..101728970hg19UCSC Ensembl
Cytoband9q22.33
Allele length
AssemblyAllele length
hg3817231
hg1917231
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738827
Supporting Variants
SamplesSSM081
Known GenesCOL15A1
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)essv6830904
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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