A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669988



Internal ID9936093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:80400974..80401175hg38UCSC Ensembl
chr6:81110691..81110892hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38202
hg19202
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5627110, essv6070417, essv5692263, essv5822612, essv5414823, essv6308508, essv5694815, essv5562823, essv5402791, essv5641482, essv5884000, essv5534420, essv5580540, essv5957447, essv6374672, essv5729702, essv6180770, essv5936357, essv6456525, essv5660091, essv6345590, essv5488839, essv6105037, essv6097639
SamplesNA18502, NA18924, NA18508, NA19399, NA19704, NA19098, NA18510, NA19448, NA19313, NA19404, NA18908, NA19247, NA20299, NA18856, NA12249, NA19099, NA19225, NA19469, NA19108, NA19256, NA19835, NA19129, NA18511, NA18487
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669988
Frequency
Sample Size1151
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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