A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893856



Internal ID18837990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103633467..103719276hg38UCSC Ensembl
Outerchr1:103555093..103755245hg38UCSC Ensembl
Innerchr1:104176089..104261898hg19UCSC Ensembl
Outerchr1:104097715..104297867hg19UCSC Ensembl
Innerchr1:103977612..104063421hg18UCSC Ensembl
Outerchr1:103899238..104099390hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38200153
hg19200153
hg18200153
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25792913, essv25786428, essv25780553, essv25800073, essv25787340, essv25782617, essv25799954, essv25785797, essv25779579, essv25787059, essv25801498, essv25786905, essv25786995, essv25780960, essv25787539, essv25800387, essv25788738, essv25785811, essv25799267, essv25800291, essv25798522, essv25790862, essv25787572, essv25798422
Samples
Known GenesACTG1P4, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, RNPC3
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893856
Frequency
Sample Size3017
Observed Gain3
Observed Loss21
Observed Complex0
Frequencyn/a


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