A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3398475



Internal ID15245438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229508782..229510280hg38UCSC Ensembl
Innerchr1:229509280..229509782hg38UCSC Ensembl
Outerchr1:229507782..229511280hg38UCSC Ensembl
chr1:229644529..229646027hg19UCSC Ensembl
Innerchr1:229645027..229645529hg19UCSC Ensembl
Outerchr1:229643529..229647027hg19UCSC Ensembl
chr1:227711152..227712650hg18UCSC Ensembl
Innerchr1:227712152..227711650hg18UCSC Ensembl
Outerchr1:227710152..227713650hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692156
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3398475
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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