A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675698



Internal ID9941803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:213139099..213146877hg38UCSC Ensembl
chr1:213312442..213320220hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg387779
hg197779
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5892746, essv6047273
SamplesHG01441, NA19625
Known GenesRPS6KC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675698
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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