A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664524



Internal ID9930629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:106539177..106539713hg38UCSC Ensembl
chr1:107081799..107082335hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38537
hg19537
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6515443, essv5798266, essv6145984, essv5477042, essv6538288, essv6023541, essv6383951, essv5837005, essv6074044, essv6429866, essv5940001
SamplesNA18508, NA11931, NA18960, NA18916, NA19457, NA19137, NA18523, NA18858, NA18576, NA18501, NA18965
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664524
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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