A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1010386



Internal ID7074451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:65596673..65602673hg38UCSC Ensembl
Outerchr2:65823807..65829807hg19UCSC Ensembl
Outerchr2:65677311..65683311hg18UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg382424
hg192424
hg182424
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564085
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1010386
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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