A curated catalogue of human genomic structural variation




Variant Details

Variant: esv996963



Internal ID7080933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:195124707..195134259hg38UCSC Ensembl
Outerchr3:194845436..194854988hg19UCSC Ensembl
Outerchr3:196326725..196336277hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg389553
hg199553
hg189553
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564758
SamplesHuRef
Known GenesXXYLT1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv996963
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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