A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3581433



Internal ID7052815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:143756548..143756548hg38UCSC Ensembl
chr5:143136113..143136113hg19UCSC Ensembl
chr5:143116306..143116306hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1006296
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3581433
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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