A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669415



Internal ID9935520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230699709..230702922hg38UCSC Ensembl
chr2:231564424..231567637hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg383214
hg193214
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5611348, essv5459657, essv5885739, essv6070639
SamplesNA18910, NA18873, NA19213, NA19129
Known GenesLOC151475
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669415
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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