A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673454



Internal ID9939559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:110375253..110380413hg38UCSC Ensembl
chr4:111296409..111301569hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg385161
hg195161
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6485954, essv6587511, essv6289366, essv5816872, essv6480803, essv5758048, essv6123361, essv6062509, essv6151453, essv6527468, essv5704498, essv6280973, essv5882725, essv6569597
SamplesNA19701, NA19399, NA19704, NA19374, NA19373, NA19379, NA19921, NA19437, HG00732, NA18907, NA19449, NA18856, NA20801, NA19223
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673454
Frequency
Sample Size1151
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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