A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676250



Internal ID9595669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:25710333..25734252hg38UCSC Ensembl
chr4:25711955..25735874hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg3823920
hg1923920
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6370680, essv5615912, essv6051123, essv5885345, essv6369829, essv5721439, essv5521068
SamplesNA18988, NA19070, NA19084, NA19009, NA19012, NA18941, NA19060
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676250
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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