A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564163



Internal ID7035263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:126917594..126928450hg38UCSC Ensembl
Outerchr3:126636437..126647293hg19UCSC Ensembl
Outerchr3:128119127..128129983hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3810857
hg1910857
hg1810857
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1002711
Supporting Variants
SamplesHuRef
Known GenesCHCHD6
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564163
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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