A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7106247



Internal ID10384529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:52993132..53004882hg38UCSC Ensembl
Outerchr3:53027148..53038898hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3811751
hg1911751
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2836680
Supporting Variants
SamplesHuRef
Known GenesSFMBT1
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7106247
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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