A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5666248



Internal ID9118845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:221205778..221209165hg38UCSC Ensembl
chr1:221379120..221382507hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg383388
hg193388
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2669674
Supporting Variants
SamplesHG01133
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5666248
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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