A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893867



Internal ID18838001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103603935..103668423hg38UCSC Ensembl
Outerchr1:103603935..103668423hg38UCSC Ensembl
Innerchr1:104146557..104211045hg19UCSC Ensembl
Outerchr1:104146557..104211045hg19UCSC Ensembl
Innerchr1:103948080..104012568hg18UCSC Ensembl
Outerchr1:103948080..104012568hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3864489
hg1964489
hg1864489
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25797619, essv25796794, essv25797380
Samples
Known GenesAMY1A, AMY1B, AMY1C, AMY2A
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893867
Frequency
Sample Size3017
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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