A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004547



Internal ID7069644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103571719..103579553hg38UCSC Ensembl
Innerchr1:104114341..104122175hg19UCSC Ensembl
Innerchr1:103915864..103923698hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg387835
hg197835
hg187835
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586423
SamplesHuRef
Known GenesAMY2B
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004547
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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