A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3894045



Internal ID18838213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:112927499..113179081hg38UCSC Ensembl
Outerchr1:112927499..113179081hg38UCSC Ensembl
Innerchr1:113470121..113721703hg19UCSC Ensembl
Outerchr1:113470121..113721703hg19UCSC Ensembl
Innerchr1:113271644..113523226hg18UCSC Ensembl
Outerchr1:113271644..113523226hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38251583
hg19251583
hg18251583
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25791795
Samples
Known GenesLOC100996251, LRIG2, SLC16A1, SLC16A1-AS1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3894045
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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