A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7233357



Internal ID10511639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143829436..143875449hg38UCSC Ensembl
Innerchr1:149324000..149370000hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3846014
hg1946001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2963790
Supporting Variants
SamplesHuRef
Known GenesFCGR1C
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7233357
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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