A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666363



Internal ID9932468
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 Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6439171, essv5515380, essv5833391, essv5956686, essv5939248, essv5585534, essv5774653, essv5519427, essv5438669
SamplesHG00542, NA18924, NA19920, NA19374, NA19373, NA20336, HG00475, NA19440, NA19147
Known GenesALPK1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666363
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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