A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303841



Internal ID14804103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:54021397..54021398hg38UCSC Ensembl
Innerchr20:54021380..54021415hg38UCSC Ensembl
Outerchr20:54021379..54021416hg38UCSC Ensembl
chr20:52637936..52637937hg19UCSC Ensembl
Innerchr20:52637919..52637954hg19UCSC Ensembl
Outerchr20:52637918..52637955hg19UCSC Ensembl
chr20:52071343..52071344hg18UCSC Ensembl
Innerchr20:52071361..52071326hg18UCSC Ensembl
Outerchr20:52071325..52071362hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg38290
hg19290
hg18290
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7822670, essv7783760, essv7818193, essv7819264, essv7771888, essv7813321, essv7813899, essv7809814, essv7829786, essv7781269, essv7771340, essv7833930, essv7772677, essv7811232, essv7826099, essv7773865, essv7789431, essv7786061, essv7829596, essv7785021, essv7793518, essv7782948, essv7786891, essv7817794, essv7775974, essv7772717, essv7797485, essv7825452, essv7775106, essv7812096, essv7801497, essv7802773, essv7822411, essv7834815, essv7798173, essv7802255, essv7776507, essv7828470, essv7777088, essv7824906, essv7773256, essv7817028, essv7832401, essv7794819, essv7811690, essv7820429, essv7787657, essv7803446, essv7815141
SamplesNA12043, NA12249, NA18861, NA12750, NA07037, NA18871, NA18561, NA18523, NA11920, NA18501, NA19093, NA18526, NA10847, NA18948, NA11931, NA18573, NA12776, NA19143, NA18508, NA11840, NA11994, NA18576, NA18960, NA07357, NA12814, NA18592, NA18609, NA11894, NA11995, NA12144, NA12751, NA12006, NA12716, NA19129, NA18572, NA19102, NA12872, NA18564, NA10851, NA18552, NA18909, NA12156, NA11992, NA18944, NA18571, NA12045, NA12717, NA12874, NA18980
Known GenesBCAS1
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303841
Frequency
Sample Size185
Observed Gain49
Observed Loss0
Observed Complex0
Frequencyn/a


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