A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564666



Internal ID7035766
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 OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1004879
Supporting Variants
SamplesHuRef
Known GenesALS2CR12, CASP8
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564666
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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