A curated catalogue of human genomic structural variation




Variant Details

Variant: esv998611



Internal ID7064481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:50481862..50489301hg38UCSC Ensembl
Outerchr3:50519293..50526732hg19UCSC Ensembl
Outerchr3:50494297..50501736hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg387440
hg197440
hg187440
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563641
SamplesHuRef
Known GenesCACNA2D2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv998611
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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