A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7109691



Internal ID10387973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:187351003..187351310hg38UCSC Ensembl
Outerchr2:188215730..188216037hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2840124
Supporting Variants
SamplesHuRef
Known GenesCALCRL
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7109691
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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