A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6684730



Internal ID9752398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:109667931..109668243hg38UCSC Ensembl
Outerchr9:112430211..112430523hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738914
Supporting Variants
SamplesSSM034
Known GenesPALM2
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)essv6684730
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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