A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3405389



Internal ID15252351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:878787..878797hg38UCSC Ensembl
Innerchr12:878779..878805hg38UCSC Ensembl
Outerchr12:878769..878813hg38UCSC Ensembl
chr12:987953..987963hg19UCSC Ensembl
Innerchr12:987945..987971hg19UCSC Ensembl
Outerchr12:987935..987979hg19UCSC Ensembl
chr12:858214..858224hg18UCSC Ensembl
Innerchr12:858232..858206hg18UCSC Ensembl
Outerchr12:858196..858240hg18UCSC Ensembl
Cytoband12p13.33
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 Variantsessv8955356, essv8955377, essv8955351, essv8955364, essv8955353, essv8955358, essv8955385, essv8955354, essv8955352, essv8955379, essv8955373, essv8955375, essv8955355, essv8955378, essv8955384, essv8955360, essv8955350, essv8955369, essv8955366, essv8955371, essv8955380, essv8955361, essv8955374, essv8955367, essv8955363, essv8955357, essv8955368, essv8955382, essv8955372, essv8955362, essv8955383, essv8955376, essv8955365
SamplesNA12717, NA18947, NA18592, NA10851, NA18603, NA18545, NA18959, NA18526, NA18510, NA12750, NA12155, NA18563, NA18944, NA18550, NA18547, NA18942, NA11992, NA18638, NA11993, NA18951, NA18605, NA18956, NA18579, NA18572, NA18948, NA18566, NA19225, NA18945, NA12716, NA19108, NA18609, NA18562, NA18965
Known GenesWNK1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3405389
Frequency
Sample Size185
Observed Gain33
Observed Loss0
Observed Complex0
Frequencyn/a


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