A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739102



Internal ID10322738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:130429468..130429951hg38UCSC Ensembl
Outerchr9:133304855..133305338hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg38484
hg19484
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6952788, essv6923891, essv6806081, essv6749372
SamplesSSM074, SSM018, SSM025, SSM056
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)esv2739102
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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