A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665547



Internal ID9584966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132298824..132299913hg38UCSC Ensembl
Outerchr12:132298787..132299963hg38UCSC Ensembl
Innerchr12:132875410..132876499hg19UCSC Ensembl
Outerchr12:132875373..132876549hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381177
hg191177
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6293187, essv6338803, essv5705300, essv6242451, essv5951667, essv6488102, essv5587019, essv5710030, essv6089726, essv5735732, essv5976172, essv6395190, essv6262243, essv6410599, essv6519126, essv5600887, essv6309243, essv6152018, essv6324473, essv5989106, essv6398510, essv5530969, essv5923204, essv5667484, essv5571952, essv6247083, essv5869027, essv6248621, essv6287217, essv6391226
SamplesNA18616, HG00619, NA12342, HG00328, HG00112, NA19072, HG01389, HG00614, HG00375, HG00326, NA11893, HG00177, HG00699, NA18617, HG00419, NA11843, NA18633, NA18543, NA18999, NA18983, NA12889, NA18631, NA18602, NA18548, HG00566, HG00320, HG00671, HG00702, HG00531, HG00312
Known GenesGALNT9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665547
Frequency
Sample Size1151
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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