A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25800073



Internal ID18824194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103625156..103755245hg38UCSC Ensembl
Innerchr1:104167778..104297867hg19UCSC Ensembl
Innerchr1:103969301..104099390hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38130090
hg19130090
hg18130090
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893856
Supporting Variants
Samples
Known GenesAMY1A, AMY1B, AMY1C, AMY2A
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=27
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25800073
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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