A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674451



Internal ID9940556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233739685..233751342hg38UCSC Ensembl
chr2:234648331..234659988hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3811658
hg1911658
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv769e199
Supporting Variantsessv5964368, essv6265383, essv5908593, essv6285527
SamplesNA19446, NA19373, NA19448, NA19908
Known GenesDNAJB3, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674451
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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