A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665548



Internal ID9584967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:39095887..39096443hg38UCSC Ensembl
chr1:39561559..39562115hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38557
hg19557
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6474265, essv6553802, essv6323734, essv5729744
SamplesNA20294, NA19190, NA19982, NA19213
Known GenesMACF1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665548
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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