A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677649



Internal ID9943754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:65690943..65691527hg38UCSC Ensembl
chr14:66157661..66158245hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38585
hg19585
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5983184, essv5715089, essv6282830, essv5852903, essv5425179, essv5631796, essv6105366, essv5992237, essv6244790, essv5903378, essv5629051, essv5428452, essv6452936, essv6181866, essv5599167, essv5729893, essv6565927, essv5962709, essv5671968, essv6205030
SamplesNA19703, NA19374, NA19396, NA19373, NA19379, NA19916, NA18498, NA19384, NA19720, NA19383, NA19462, NA19347, HG01101, NA18517, NA19444, NA19324, NA19398, NA19093, NA19780, NA18522
Known GenesFUT8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677649
Frequency
Sample Size1151
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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