A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791300



Internal ID18830988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103926586..104548116hg38UCSC Ensembl
Innerchr1:104469208..105090738hg19UCSC Ensembl
Innerchr1:104270731..104892261hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38621531
hg19621531
hg18621531
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893912
Supporting Variants
Samples
Known GenesLOC100129138
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=137
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791300
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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