A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666590



Internal ID9586009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:153369644..153372437hg38UCSC Ensembl
chr4:154290796..154293589hg19UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg382794
hg192794
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6133105, essv6543553
SamplesHG00320, HG00329
Known GenesMND1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666590
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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