A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6965107



Internal ID9724698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:133548993..133549300hg38UCSC Ensembl
Outerchr9:136414115..136414422hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739169, esv2739138
Supporting Variants
SamplesSSM027
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)essv6965107
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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