A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5569608



Internal ID8998083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244839099..244839500hg38UCSC Ensembl
chr1:245002401..245002802hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38402
hg19402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2669232
Supporting Variants
SamplesHG00596
Known GenesCOX20
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5569608
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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