A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5681506



Internal ID8658909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:54942508..54942752hg38UCSC Ensembl
chr4:55808674..55808918hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2675634
Supporting Variants
SamplesNA19093
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5681506
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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