A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1006508



Internal ID6718625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:63238564..63243398hg38UCSC Ensembl
Outerchr1:63704235..63709069hg19UCSC Ensembl
Outerchr1:63476823..63481657hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg384835
hg194835
hg184835
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565518
SamplesHuRef
Known GenesLINC00466
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1006508
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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