A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3428812



Internal ID15275768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:47591193..47592291hg38UCSC Ensembl
Innerchr1:47591291..47592193hg38UCSC Ensembl
Outerchr1:47590193..47593291hg38UCSC Ensembl
chr1:48056865..48057963hg19UCSC Ensembl
Innerchr1:48056963..48057865hg19UCSC Ensembl
Outerchr1:48055865..48058963hg19UCSC Ensembl
chr1:47829452..47830550hg18UCSC Ensembl
Innerchr1:47830452..47829550hg18UCSC Ensembl
Outerchr1:47828452..47831550hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv85e59
Supporting Variantsessv8692353
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3428812
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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