A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6752274



Internal ID10160192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:134798358..134798867hg38UCSC Ensembl
Outerchr9:137690204..137690713hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38510
hg19510
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739244
Supporting Variants
SamplesSSM057
Known GenesCOL5A1
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)essv6752274
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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