A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3582601



Internal ID7053983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:2180210..2180210hg38UCSC Ensembl
chr5:2180324..2180324hg19UCSC Ensembl
chr5:2233324..2233324hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3874
hg1974
hg1874
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1010926
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3582601
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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