A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671485



Internal ID9590904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:88909493..88910656hg38UCSC Ensembl
chr4:89830644..89831807hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg381164
hg191164
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5806291
SamplesNA18548
Known GenesFAM13A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671485
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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