A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3574475



Internal ID7045857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:161095804..161095804hg38UCSC Ensembl
chr2:161952315..161952315hg19UCSC Ensembl
chr2:161660561..161660561hg18UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1005143
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3574475
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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