A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5968582



Internal ID8945985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27558467..27558598hg38UCSC Ensembl
chr12:27711400..27711531hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38132
hg19132
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2658186
Supporting Variants
SamplesHG00657
Known GenesPPFIBP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5968582
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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