A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674566



Internal ID9593985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:20919973..20922448hg38UCSC Ensembl
chr17:20823286..20825761hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg382476
hg192476
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5946826, essv6597006, essv6291574, essv5418153, essv6003431, essv6337863, essv5623204, essv5855279, essv5891679, essv5658287, essv5876874, essv6113836, essv6307110, essv5825513, essv6367674, essv5577780, essv6384829, essv6109340, essv6224011, essv6071022, essv6368444, essv6173344, essv5637707, essv6335805, essv5858183, essv5515964, essv5935634, essv5805571, essv5860691, essv5776616, essv6178341, essv5405561, essv5627479, essv5541316, essv6148862, essv6587523, essv5871951, essv6286080, essv5911866
SamplesNA19700, NA19909, NA19393, NA19443, NA19098, NA18870, NA19107, NA19446, NA19319, NA20756, NA18916, NA18498, NA18874, NA19917, NA19235, NA19901, NA18908, NA19451, HG01187, NA18933, NA20126, NA19114, NA18856, NA19761, NA19375, NA19390, NA19256, NA19473, NA19144, NA19835, NA19360, NA20348, NA19472, NA19468, NA19430, NA18505, NA19463, NA19346, NA19153
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674566
Frequency
Sample Size1151
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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