A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739098



Internal ID10322734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:130268339..130272541hg38UCSC Ensembl
Outerchr9:133030618..133034820hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg384203
hg194203
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6915777, essv6908456, essv6931387, essv6809075, essv6900334
SamplesSSM100, SSM075, SSM014, SSM020, SSM016
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)esv2739098
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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