A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669461



Internal ID9588880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69532889..69585295hg38UCSC Ensembl
Outerchr5:69532518..69585665hg38UCSC Ensembl
Innerchr5:68828716..68881122hg19UCSC Ensembl
Outerchr5:68828345..68881492hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3853148
hg1953148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5755985, essv5614816, essv6008030, essv5541229, essv6476229, essv6494813, essv5669543, essv5542656, essv6400148, essv5676462, essv5898006, essv5799438, essv6192895, essv5486910, essv5978078, essv6470749, essv5934205, essv5405415, essv6231439, essv5971102, essv5789744, essv5768254, essv5991124, essv6021693, essv6485744, essv5710960, essv5928271, essv6311036, essv6425608, essv6583994, essv5431196
SamplesNA18605, NA18595, NA18534, NA18612, NA18550, NA18603, NA18626, NA18632, NA18559, NA18627, NA18622, NA18618, NA18617, NA18638, NA18547, NA18620, NA18572, NA18564, NA18562, NA18579, NA18543, NA18582, NA18567, NA18538, NA18565, NA18560, NA18614, NA18610, NA18532, NA18615, NA18555
Known GenesGTF2H2C, GTF2H2D, OCLN
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669461
Frequency
Sample Size1151
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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