A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1002255



Internal ID7067371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:44407918..44419408hg38UCSC Ensembl
Outerchr3:44449410..44460900hg19UCSC Ensembl
Outerchr3:44424414..44435904hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3811491
hg1911491
hg1811491
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564226
SamplesHuRef
Known GenesTCAIM
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1002255
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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