A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738730



Internal ID10322366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:89404679..89405780hg38UCSC Ensembl
Outerchr9:92019594..92020695hg19UCSC Ensembl
Cytoband9q22.2
Allele length
AssemblyAllele length
hg381102
hg191102
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6767854, essv6935608, essv6965030, essv6862054, essv6677371, essv6931328, essv6866570, essv6976275, essv6757921, essv6743694, essv6755181, essv6970277, essv6827246
SamplesSSM059, SSM008, SSM027, SSM011, SSM058, SSM028, SSM021, SSM029, SSM089, SSM032, SSM020, SSM053, SSM080
Known GenesSEMA4D
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)esv2738730
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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