A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7843391



Internal ID13622406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:176692542..176692542hg38UCSC Ensembl
chr5:176119543..176119543hg19UCSC Ensembl
chr5:176052149..176052149hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3877
hg1977
hg1877
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3310449
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
AnalysisCortex de-novo
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7843391
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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