A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3381843



Internal ID14882119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:109685107..109692305hg38UCSC Ensembl
Innerchr1:109686107..109691305hg38UCSC Ensembl
Outerchr1:109684107..109693305hg38UCSC Ensembl
chr1:110227729..110234927hg19UCSC Ensembl
Innerchr1:110228729..110233927hg19UCSC Ensembl
Outerchr1:110226729..110235927hg19UCSC Ensembl
chr1:110029252..110036450hg18UCSC Ensembl
Innerchr1:110030252..110035450hg18UCSC Ensembl
Outerchr1:110028252..110037450hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg387199
hg197199
hg187199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691747
SamplesNA19240
Known GenesGSTM1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3381843
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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