A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664330



Internal ID9930435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:161193027..161194122hg38UCSC Ensembl
Outerchr5:161192990..161194172hg38UCSC Ensembl
Innerchr5:160620034..160621129hg19UCSC Ensembl
Outerchr5:160619997..160621179hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg381183
hg191183
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6158615, essv6403050
SamplesNA19700, NA19256
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664330
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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