A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004879



Internal ID7069975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:201281835..201288529hg38UCSC Ensembl
Outerchr2:202146558..202153252hg19UCSC Ensembl
Outerchr2:201854803..201861497hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg386695
hg196695
hg186695
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564666
SamplesHuRef
Known GenesALS2CR12, CASP8
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004879
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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