A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671923



Internal ID9938028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:213266834..213268234hg38UCSC Ensembl
Outerchr1:213266797..213268284hg38UCSC Ensembl
Innerchr1:213440177..213441577hg19UCSC Ensembl
Outerchr1:213440140..213441627hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381488
hg191488
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5964000
SamplesHG00280
Known GenesRPS6KC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671923
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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