A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3337050



Internal ID14837321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:215111942..215111958hg38UCSC Ensembl
Innerchr1:215111944..215111954hg38UCSC Ensembl
Outerchr1:215111928..215111972hg38UCSC Ensembl
chr1:215285285..215285301hg19UCSC Ensembl
Innerchr1:215285287..215285297hg19UCSC Ensembl
Outerchr1:215285271..215285315hg19UCSC Ensembl
chr1:213351908..213351924hg18UCSC Ensembl
Innerchr1:213351920..213351910hg18UCSC Ensembl
Outerchr1:213351894..213351938hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38282
hg19282
hg18282
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8673900
SamplesNA19238
Known GenesKCNK2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3337050
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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