A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672661



Internal ID9938766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:3346412..3349668hg38UCSC Ensembl
Outerchr5:3346237..3349855hg38UCSC Ensembl
Innerchr5:3346526..3349782hg19UCSC Ensembl
Outerchr5:3346351..3349969hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg383619
hg193619
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5535638, essv6509096
SamplesNA12044, HG00344
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672661
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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