A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669791



Internal ID9589210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:244455805..244458328hg38UCSC Ensembl
Outerchr1:244455648..244458481hg38UCSC Ensembl
Innerchr1:244619107..244621630hg19UCSC Ensembl
Outerchr1:244618950..244621783hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg382834
hg192834
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6133494, essv5634576, essv6479671
SamplesNA20532, NA20796, NA19657
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669791
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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