A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668220



Internal ID9934325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149416079..149416880hg38UCSC Ensembl
chr5:148795642..148796443hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38802
hg19802
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6596172, essv6177534, essv6223446, essv6044276, essv6422223, essv5684247, essv5685020, essv5755656, essv6127810, essv6067996, essv5537249, essv6324179, essv6056577, essv5745231, essv5737343, essv6195484, essv5691545, essv5631646, essv6452778, essv5654376, essv6343842, essv6134247, essv6029400
SamplesNA19703, NA19057, NA19678, NA11992, NA11994, NA18990, NA19921, HG00264, HG00443, NA19707, NA12342, NA18499, HG00146, NA19834, NA18543, NA19712, NA18610, NA19779, HG00123, NA20807, NA20585, NA19065, NA18487
Known GenesMIR143HG
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668220
Frequency
Sample Size1151
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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