A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5515380



Internal ID8492784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:112304157..112311018hg38UCSC Ensembl
chr4:113225313..113232174hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg386862
hg196862
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2666363
Supporting Variants
SamplesNA19920
Known GenesALPK1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5515380
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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