A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2851013



Internal ID10523993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:91766506..91767778hg38UCSC Ensembl
Outerchr1:92232063..92233335hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg381273
hg191273
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7120580
SamplesHuRef
Known GenesTGFBR3
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)esv2851013
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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