A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1005143



Internal ID7070239
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3574475
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1005143
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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