A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3421442



Internal ID14921714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:215111933..215111947hg38UCSC Ensembl
Innerchr1:215111924..215111956hg38UCSC Ensembl
Outerchr1:215111910..215111968hg38UCSC Ensembl
chr1:215285276..215285290hg19UCSC Ensembl
Innerchr1:215285267..215285299hg19UCSC Ensembl
Outerchr1:215285253..215285311hg19UCSC Ensembl
chr1:213351899..213351913hg18UCSC Ensembl
Innerchr1:213351922..213351890hg18UCSC Ensembl
Outerchr1:213351876..213351934hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8902926, essv8902951, essv8902939, essv8902949, essv8902934, essv8902923, essv8902946, essv8902931, essv8902943, essv8902935, essv8902952, essv8902921, essv8902922, essv8902940, essv8902924, essv8902941, essv8902919, essv8902932, essv8902944, essv8902930, essv8902920, essv8902948, essv8902937, essv8902950, essv8902953, essv8902942, essv8902933, essv8902928, essv8902945, essv8902938, essv8902929, essv8902927
SamplesNA18502, NA12717, NA18861, NA18508, NA18504, NA18510, NA12750, NA18519, NA18489, NA18916, NA19138, NA18498, NA19137, NA19172, NA12828, NA19210, NA18516, NA18871, NA18907, NA19114, NA18853, NA19257, NA19225, NA18858, NA18517, NA12763, NA06986, NA19093, NA19102, NA19116, NA18511, NA18522
Known GenesKCNK2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3421442
Frequency
Sample Size185
Observed Gain32
Observed Loss0
Observed Complex0
Frequencyn/a


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