A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664927



Internal ID9931032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:221570610..221581083hg38UCSC Ensembl
chr1:221743952..221754425hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3810474
hg1910474
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6572705, essv5820641, essv6588010, essv5849507, essv5661990, essv5986678, essv6109198, essv5949949, essv6169661, essv5856849
SamplesNA19377, NA19381, NA19201, NA19119, NA18520, NA19160, NA19440, NA18517, NA19248, NA19661
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664927
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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