A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5740164



Internal ID8717567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:152155609..152156221hg38UCSC Ensembl
chr1:152128085..152128697hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38613
hg19613
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2659441
Supporting Variants
SamplesNA20542
Known GenesRPTN
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5740164
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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