A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676861



Internal ID9596280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:83546228..83547495hg38UCSC Ensembl
chr4:84467381..84468648hg19UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg381268
hg191268
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5440703, essv6056287, essv5784506
SamplesHG01079, HG00590, NA18853
Known GenesAGPAT9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676861
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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