A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6702002



Internal ID10116550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:119497237..119497617hg38UCSC Ensembl
Outerchr9:122259515..122259895hg19UCSC Ensembl
Cytoband9q33.1
Allele length
AssemblyAllele length
hg38381
hg19381
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738991
Supporting Variants
SamplesSSM039
Known Genes
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)essv6702002
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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