A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669351



Internal ID9588770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12793716..12859498hg38UCSC Ensembl
chr1:12853865..12919353hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3865783
hg1965489
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5455860, essv5886964
SamplesNA19197, NA19087
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF11, PRAMEF2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669351
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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