A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668299



Internal ID9934404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:625216..627822hg38UCSC Ensembl
Outerchr11:624845..628192hg38UCSC Ensembl
Innerchr11:625216..627822hg19UCSC Ensembl
Outerchr11:624845..628192hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg383348
hg193348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6537703, essv5889723, essv6054866, essv6068710, essv5400255, essv5419607, essv5552056, essv5487943, essv5603184, essv5451184, essv5759105, essv5822691, essv5855034, essv5473965, essv6208253, essv6357849, essv5724256, essv6519116, essv6036065, essv5419011, essv6539516, essv6033549, essv6131116, essv6151799, essv6357325, essv5787170, essv5839450, essv5822502, essv5454062, essv5651245, essv5929604, essv5963186, essv5908027, essv6496823, essv5430702, essv5673078, essv6553068, essv5554392, essv6217801, essv5570010, essv5825330, essv5766943, essv5681707, essv5781039, essv5980141, essv6034087, essv6152007, essv6288243, essv5854415, essv5648325, essv6100438
SamplesNA18621, NA18599, NA18596, NA18530, NA18606, NA18616, NA18602, NA18627, NA18597, NA18595, NA18635, NA18619, NA18558, NA18547, NA18618, NA18574, NA18560, NA18617, NA18557, NA18638, NA18614, NA18544, NA18613, NA18538, NA18637, NA18534, NA18630, NA18548, NA18626, NA18553, NA18536, NA18634, NA18541, NA18576, NA18546, NA18632, NA18542, NA18543, NA18559, NA18628, NA18615, NA18610, NA18631, NA18636, NA18552, NA18624, NA18623, NA18612, NA18549, NA18622, NA18620
Known GenesCDHR5, SCT
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668299
Frequency
Sample Size1151
Observed Gain0
Observed Loss51
Observed Complex0
Frequencyn/a


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