A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738815



Internal ID10322451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:97614209..97616879hg38UCSC Ensembl
Outerchr9:100376491..100379161hg19UCSC Ensembl
Cytoband9q22.33
Allele length
AssemblyAllele length
hg382671
hg192671
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6873367, essv6908425, essv6815074, essv6866579, essv6795574, essv6952758, essv6803182, essv6915750, essv6890898, essv6931345, essv6944410, essv6720271, essv6862209, essv6809046, essv6827256
SamplesSSM071, SSM075, SSM011, SSM097, SSM073, SSM023, SSM089, SSM044, SSM014, SSM020, SSM016, SSM080, SSM077, SSM091, SSM025
Known GenesTSTD2
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)esv2738815
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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