A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739201



Internal ID9973542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:134251603..134251927hg38UCSC Ensembl
Outerchr9:137143449..137143773hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6702025
SamplesSSM039
Known Genes
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)esv2739201
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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