A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676917



Internal ID9943022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:43205471..43205799hg38UCSC Ensembl
Outerchr22:43205434..43205849hg38UCSC Ensembl
Innerchr22:43601477..43601805hg19UCSC Ensembl
Outerchr22:43601440..43601855hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38416
hg19416
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6150327, essv5732106
SamplesHG00684, HG00343
Known GenesSCUBE1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676917
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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