A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565161



Internal ID7036543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:75463062..75466310hg38UCSC Ensembl
Outerchr12:75856842..75860090hg19UCSC Ensembl
Outerchr12:74143109..74146357hg18UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg383249
hg193249
hg183249
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1006356
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565161
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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