A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669940



Internal ID9589359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:88864981..88868559hg38UCSC Ensembl
Outerchr4:88864944..88868609hg38UCSC Ensembl
Innerchr4:89786132..89789710hg19UCSC Ensembl
Outerchr4:89786095..89789760hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg383666
hg193666
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6245699, essv6257849
SamplesNA19660, NA19664
Known GenesFAM13A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669940
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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