A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5718911



Internal ID8696314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40086685..40087968hg38UCSC Ensembl
chr1:40552357..40553640hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg381284
hg191284
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2663819
Supporting Variants
SamplesNA19002
Known GenesPPT1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5718911
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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