A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665836



Internal ID9931941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:45191788..45213431hg38UCSC Ensembl
chr5:45191890..45213533hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3821644
hg1921644
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6057417, essv6362415, essv5560207
SamplesNA19332, NA19189, NA19429
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665836
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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