A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5778152



Internal ID9872919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:148505510..148508722hg38UCSC Ensembl
chr4:149426662..149429874hg19UCSC Ensembl
Cytoband4q31.23
Allele length
AssemblyAllele length
hg383213
hg193213
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2675365
Supporting Variants
SamplesNA20581
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5778152
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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