A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7132135



Internal ID10410417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:210653881..210654204hg38UCSC Ensembl
Outerchr1:210827225..210827548hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2862568
Supporting Variants
SamplesHuRef
Known GenesHHAT
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7132135
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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