A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678504



Internal ID9944609
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 StatusM
Merged Variants
Supporting Variantsessv6548336, essv5449669, essv6558918, essv6084092
SamplesNA19371, NA19453, NA19434, NA18873
Known GenesRHOU
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678504
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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