A curated catalogue of human genomic structural variation




Variant Details

Variant: esv988817



Internal ID7060648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:66275806..66283363hg38UCSC Ensembl
Outerchr2:66502938..66510495hg19UCSC Ensembl
Outerchr2:66356442..66363999hg18UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg387558
hg197558
hg187558
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564634
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv988817
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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