A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6791415



Internal ID10196368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:128118613..128119090hg38UCSC Ensembl
Outerchr9:130880892..130881369hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg38478
hg19478
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739058
Supporting Variants
SamplesSSM070
Known GenesLOC100289019
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)essv6791415
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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