A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658928



Internal ID9578347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40267331..40267640hg38UCSC Ensembl
chr1:40733003..40733312hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6031656, essv5700747, essv6099160, essv5893822, essv5880748, essv6549863, essv5980884
SamplesHG00142, HG00731, HG00273, HG00254, HG00285, HG00734, HG00274
Known GenesZMPSTE24
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658928
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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