A curated catalogue of human genomic structural variation




Variant Details

Variant: esv991709



Internal ID7077498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:20177127..20183610hg38UCSC Ensembl
Outerchr2:20376888..20383371hg19UCSC Ensembl
Outerchr2:20240369..20246852hg18UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg386484
hg196484
hg186484
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563694
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv991709
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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