A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669891



Internal ID9589310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:221424954..221425159hg38UCSC Ensembl
chr2:222289674..222289879hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38206
hg19206
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6189093, essv5477191, essv5527196, essv5826855, essv6506191, essv5770289, essv5938762, essv5423828, essv5812821, essv5959689, essv6240119, essv6592922, essv5762274, essv6266882, essv5646721, essv5627619, essv6302169, essv5766367
SamplesNA19436, NA19404, NA19401, NA19469, NA19451, NA19461, NA19379, NA19239, NA19443, NA19107, NA19396, NA19316, NA19189, NA18498, NA19399, NA19470, NA19130, NA19240
Known GenesEPHA4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669891
Frequency
Sample Size1151
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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