A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307846



Internal ID14808108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:215111934..215111935hg38UCSC Ensembl
Innerchr1:215111916..215111953hg38UCSC Ensembl
Outerchr1:215111915..215111954hg38UCSC Ensembl
chr1:215285277..215285278hg19UCSC Ensembl
Innerchr1:215285259..215285296hg19UCSC Ensembl
Outerchr1:215285258..215285297hg19UCSC Ensembl
chr1:213351900..213351901hg18UCSC Ensembl
Innerchr1:213351919..213351882hg18UCSC Ensembl
Outerchr1:213351881..213351920hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38262
hg19262
hg18262
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7836316, essv7803838, essv7816446, essv7825516, essv7805295, essv7798753, essv7832055, essv7788847, essv7777801, essv7792050, essv7814104, essv7778799, essv7771564, essv7808447, essv7789683, essv7826229, essv7816118, essv7804364, essv7779444, essv7806930, essv7781158, essv7792990, essv7832702, essv7819926, essv7823316, essv7829804, essv7805818, essv7806331, essv7786392, essv7811353, essv7813969, essv7801579, essv7828089
SamplesNA18502, NA12717, NA18861, NA18508, NA18504, NA18510, NA12750, NA18519, NA18489, NA18916, NA19138, NA18498, NA19137, NA19238, NA19172, NA12828, NA18516, NA18871, NA18907, NA19114, NA18853, NA19257, NA19225, NA18858, NA18517, NA12763, NA06986, NA19143, NA19093, NA19102, NA19116, NA18511, NA18522
Known GenesKCNK2
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307846
Frequency
Sample Size185
Observed Gain33
Observed Loss0
Observed Complex0
Frequencyn/a


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