A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675384



Internal ID9941489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:192321277..192327229hg38UCSC Ensembl
chr2:193186003..193191955hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg385953
hg195953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv751e199
Supporting Variantsessv6095889
SamplesNA19473
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675384
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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