A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677905



Internal ID9944010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:190124479..190129592hg38UCSC Ensembl
chr2:190989205..190994318hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg385114
hg195114
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6301652, essv5461920
SamplesNA19384, NA19900
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677905
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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