A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669067



Internal ID9588486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:214534513..214535561hg38UCSC Ensembl
Outerchr1:214534476..214535611hg38UCSC Ensembl
Innerchr1:214707856..214708904hg19UCSC Ensembl
Outerchr1:214707819..214708954hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg381136
hg191136
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5603907
SamplesHG01082
Known GenesPTPN14
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669067
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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