A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668066



Internal ID9934171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:143859403..144083480hg38UCSC Ensembl
chr4:144780556..145004633hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38224078
hg19224078
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv978e199
Supporting Variantsessv6128623
SamplesHG00108
Known GenesGYPB, GYPE
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668066
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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