A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3371266



Internal ID14871525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:37632249..37632260hg38UCSC Ensembl
Innerchr21:37632239..37632267hg38UCSC Ensembl
Outerchr21:37632228..37632278hg38UCSC Ensembl
chr21:39004551..39004562hg19UCSC Ensembl
Innerchr21:39004541..39004569hg19UCSC Ensembl
Outerchr21:39004530..39004580hg19UCSC Ensembl
chr21:37926421..37926432hg18UCSC Ensembl
Innerchr21:37926439..37926411hg18UCSC Ensembl
Outerchr21:37926400..37926450hg18UCSC Ensembl
Cytoband21q22.13
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 Variantsessv8977317, essv8977347, essv8977341, essv8977323, essv8977308, essv8977330, essv8977301, essv8977319, essv8977316, essv8977310, essv8977329, essv8977345, essv8977332, essv8977333, essv8977305, essv8977334, essv8977338, essv8977320, essv8977339, essv8977315, essv8977302, essv8977307, essv8977331, essv8977311, essv8977306, essv8977346, essv8977309, essv8977318, essv8977335, essv8977313, essv8977343, essv8977326, essv8977327, essv8977304, essv8977344, essv8977321, essv8977328, essv8977322, essv8977324, essv8977312, essv8977340, essv8977342
SamplesNA11881, NA18964, NA12249, NA18605, NA12750, NA18952, NA19114, NA11918, NA18550, NA10847, NA18545, NA18948, NA12828, NA18608, NA18542, NA18566, NA18960, NA18563, NA18592, NA12761, NA18638, NA18959, NA18609, NA18973, NA11995, NA18593, NA12144, NA18572, NA19005, NA18558, NA18564, NA18942, NA18940, NA10851, NA18582, NA18907, NA12156, NA12003, NA18944, NA18532, NA18555, NA18980
Known GenesKCNJ6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3371266
Frequency
Sample Size185
Observed Gain42
Observed Loss0
Observed Complex0
Frequencyn/a


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