A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661255



Internal ID9927360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:23409658..23411267hg38UCSC Ensembl
chr1:23736151..23737760hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg381610
hg191610
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6396350, essv5568567, essv5850968, essv5480655, essv5458396, essv5491669, essv5586828, essv6266818, essv6500360, essv5561803, essv6037789, essv6234199, essv6226673, essv6293220, essv6264187, essv6008967, essv5810948, essv6018205, essv6342006, essv6030979, essv5881841, essv5543867, essv6294880, essv5790002, essv6059235, essv5702593, essv5806711, essv6357101, essv6199177, essv5744840, essv6354537, essv5575981, essv6570160, essv6328250, essv5544839, essv5805488, essv6358225, essv6307122, essv6038526, essv5518126
SamplesHG00403, HG00442, NA18999, HG00699, HG00449, NA18940, NA18550, NA18635, HG00683, NA18977, NA18560, NA19075, NA18544, NA19082, NA19070, HG00557, HG00701, HG00657, HG00584, NA18637, HG00500, HG00619, HG00708, HG00635, HG00684, HG00613, NA18634, NA19012, NA18546, NA18632, HG00607, HG00662, HG00614, HG00478, NA18631, HG00595, HG00628, NA18612, NA19074, HG00593
Known GenesTCEA3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661255
Frequency
Sample Size1151
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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