A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6861884



Internal ID9911806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:133549007..133549262hg38UCSC Ensembl
Outerchr9:136414129..136414384hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg38256
hg19256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739169, esv2739138
Supporting Variants
SamplesSSM088
Known GenesADAMTSL2
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)essv6861884
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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