A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675306



Internal ID9941411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:211482088..211483376hg38UCSC Ensembl
chr1:211655430..211656718hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381289
hg191289
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6037813, essv6377210, essv6264375, essv6597650, essv5469182, essv5826274, essv5775767, essv5420737, essv5953800, essv5676446, essv6319650
SamplesNA19394, NA19448, NA19197, NA19457, NA19904, NA19384, NA18908, NA19707, NA19390, NA19444, NA19474
Known GenesRD3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675306
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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