A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673417



Internal ID9939522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:5738836..5742542hg38UCSC Ensembl
Outerchr11:5738465..5742912hg38UCSC Ensembl
Innerchr11:5760066..5763772hg19UCSC Ensembl
Outerchr11:5759695..5764142hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg384448
hg194448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6576821, essv5445161, essv6302146, essv6329090, essv5461653, essv6335653, essv5732473, essv6082998, essv5724659, essv5735641, essv5705048, essv6483435, essv5821225, essv6138683, essv6278395, essv5802247
SamplesNA20529, NA20813, NA20533, NA20524, NA20809, NA20506, NA20525, NA20538, NA20530, NA20504, NA20582, NA20510, NA20826, NA20528, NA20502, NA20509
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673417
Frequency
Sample Size1151
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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