A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3416321



Internal ID15263280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:25035574..25037272hg38UCSC Ensembl
Innerchr1:25036272..25036574hg38UCSC Ensembl
Outerchr1:25034574..25038272hg38UCSC Ensembl
chr1:25362065..25363763hg19UCSC Ensembl
Innerchr1:25362763..25363065hg19UCSC Ensembl
Outerchr1:25361065..25364763hg19UCSC Ensembl
chr1:25234652..25236350hg18UCSC Ensembl
Innerchr1:25235652..25235350hg18UCSC Ensembl
Outerchr1:25233652..25237350hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692244
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3416321
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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