A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv978e199



Internal ID22758751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:143790709..144083480hg38UCSC Ensembl
chr4:144711862..145004633hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38292772
hg19292772
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2656811, esv2668066, esv2664282
SamplesHG00108, HG01113, NA19102
Known GenesGYPB, GYPE
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv978e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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