A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665278



Internal ID9931383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:66484163..66485226hg38UCSC Ensembl
Outerchr4:66484006..66485379hg38UCSC Ensembl
Innerchr4:67349881..67350944hg19UCSC Ensembl
Outerchr4:67349724..67351097hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg381374
hg191374
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5497555, essv6542405, essv6142702, essv6391424, essv6260247
SamplesNA19466, NA19372, NA19469, NA19712, NA19093
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665278
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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