A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7116691



Internal ID10048287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:69123084..69129084hg38UCSC Ensembl
Innerchr9:71738000..71744000hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2847124
Supporting Variants
SamplesHuRef
Known GenesTJP2
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7116691
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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