A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6558918



Internal ID9703253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:228689238..228690618hg38UCSC Ensembl
chr1:228824985..228826365hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg381381
hg191381
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2678504
Supporting Variants
SamplesNA19453
Known GenesRHOU
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6558918
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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