A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673926



Internal ID9940031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40246773..40247124hg38UCSC Ensembl
chr1:40712445..40712796hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38352
hg19352
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5736367, essv5493796, essv6303251, essv5558828
SamplesNA19703, NA19319, NA20278, NA19375
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673926
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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