A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7130801



Internal ID10409083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143040660..143040660hg38UCSC Ensembl
chr8:144122077..144122077hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2861234
Supporting Variants
SamplesHuRef
Known GenesC8orf31
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7130801
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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