A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739247



Internal ID10322883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:134829290..134829706hg38UCSC Ensembl
Outerchr9:137721136..137721552hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38417
hg19417
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6787339
SamplesSSM069
Known GenesCOL5A1, LOC101448202
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)esv2739247
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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