A curated catalogue of human genomic structural variation




Variant Details

Variant: esv991333



Internal ID7077236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:75889250..75897782hg38UCSC Ensembl
Outerchr2:76116376..76124908hg19UCSC Ensembl
Outerchr2:75969884..75978416hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg388533
hg198533
hg188533
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564104
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv991333
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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