A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3586624



Internal ID6711320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103594092..103760776hg38UCSC Ensembl
Innerchr1:104136714..104303398hg19UCSC Ensembl
Innerchr1:103938237..104104921hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38166685
hg19166685
hg18166685
Variant TypeCNV gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1003868
Supporting Variants
SamplesHuRef
Known GenesAMY1A, AMY1B, AMY1C, AMY2A
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3586624
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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