A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25797380



Internal ID18822796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103603935..103668423hg38UCSC Ensembl
Innerchr1:104146557..104211045hg19UCSC Ensembl
Innerchr1:103948080..104012568hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3864489
hg1964489
hg1864489
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893867
Supporting Variants
Samples
Known GenesAMY1A, AMY1B, AMY1C, AMY2A
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=5
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25797380
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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