A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3360314



Internal ID15207293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103230923..103230959hg38UCSC Ensembl
Innerchr1:103230927..103230953hg38UCSC Ensembl
Outerchr1:103230893..103230989hg38UCSC Ensembl
chr1:103696479..103696515hg19UCSC Ensembl
Innerchr1:103696483..103696509hg19UCSC Ensembl
Outerchr1:103696449..103696545hg19UCSC Ensembl
chr1:103469067..103469103hg18UCSC Ensembl
Innerchr1:103469097..103469071hg18UCSC Ensembl
Outerchr1:103469037..103469133hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38280
hg19280
hg18280
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8900549, essv8900546, essv8900548, essv8900544, essv8900543, essv8900542, essv8900545
SamplesNA18519, NA18907, NA19257, NA18909, NA18501, NA19093, NA18522
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3360314
Frequency
Sample Size185
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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