A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670462



Internal ID9936567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:221151793..221153007hg38UCSC Ensembl
chr1:221325135..221326349hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg381215
hg191215
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5398652, essv5645056, essv5517838, essv6562728, essv5702741, essv5475760, essv6535362, essv5786388, essv6122215, essv5928693, essv6190684, essv5601850, essv6242077, essv5443332, essv6039057
SamplesNA19914, NA19443, NA19190, NA19448, HG01488, NA19457, NA19371, NA19317, HG01124, NA19347, NA19473, HG01174, NA19398, NA19438, NA18522
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670462
Frequency
Sample Size1151
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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