A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739155



Internal ID9973496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:133207537..133207988hg38UCSC Ensembl
Outerchr9:136082924..136083375hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg38452
hg19452
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6672484, essv6912187
SamplesSSM031, SSM015
Known GenesOBP2B
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)esv2739155
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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