A curated catalogue of human genomic structural variation




Variant Details

Variant: esv992361



Internal ID7062087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:217970265..217975066hg38UCSC Ensembl
Outerchr2:218834988..218839789hg19UCSC Ensembl
Outerchr2:218543233..218548034hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg384802
hg194802
hg184802
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564578
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv992361
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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