A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1007144



Internal ID7072237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:50647262..50658843hg38UCSC Ensembl
Outerchr16:50681173..50692754hg19UCSC Ensembl
Outerchr16:49238674..49250255hg18UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3811582
hg1911582
hg1811582
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564720
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1007144
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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