A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308609



Internal ID14808872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:215111947..215111948hg38UCSC Ensembl
Innerchr1:215111918..215111977hg38UCSC Ensembl
Outerchr1:215111917..215111978hg38UCSC Ensembl
chr1:215285290..215285291hg19UCSC Ensembl
Innerchr1:215285261..215285320hg19UCSC Ensembl
Outerchr1:215285260..215285321hg19UCSC Ensembl
chr1:213351913..213351914hg18UCSC Ensembl
Innerchr1:213351943..213351884hg18UCSC Ensembl
Outerchr1:213351883..213351944hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38282
hg19282
hg18282
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7837426, essv7838218, essv7838054, essv7837752
SamplesNA12892, NA12891, NA12878, NA19240
Known GenesKCNK2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308609
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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