A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7115692



Internal ID10047288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:243619443..243620453hg38UCSC Ensembl
Outerchr1:243782745..243783755hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381011
hg191011
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2846125
Supporting Variants
SamplesHuRef
Known GenesAKT3
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7115692
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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