A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667144



Internal ID9933249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:54141348..54146761hg38UCSC Ensembl
chr4:55007515..55012928hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg385414
hg195414
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6442838, essv5837079, essv6273165, essv5791243, essv5465717
SamplesNA19466, NA19350, NA19393, NA19471, NA19435
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667144
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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