A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673811



Internal ID9939916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:66513996..66527692hg38UCSC Ensembl
Outerchr4:66513822..66527845hg38UCSC Ensembl
Innerchr4:67379714..67393410hg19UCSC Ensembl
Outerchr4:67379540..67393563hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3814024
hg1914024
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5458374, essv6313811, essv5531914
SamplesHG00403, NA18526, NA18541
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673811
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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