A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674782



Internal ID9940887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:190396391..190433663hg38UCSC Ensembl
Outerchr3:190396357..190433698hg38UCSC Ensembl
Innerchr3:190114180..190151452hg19UCSC Ensembl
Outerchr3:190114146..190151487hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3837342
hg1937342
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv902e199
Supporting Variantsessv5983342
SamplesNA19446
Known GenesCLDN16, TMEM207
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674782
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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