A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665215



Internal ID9931320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:166403449..166410472hg38UCSC Ensembl
chr1:166372686..166379709hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg387024
hg197024
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6008887, essv5540243, essv6161786, essv5671403, essv5858313, essv5548259, essv6451025, essv5445558, essv5552380, essv5884195
SamplesNA19377, NA19381, NA19404, NA18868, NA19347, NA19436, NA19712, NA19360, NA19093, NA19463
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665215
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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