A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665340



Internal ID9931445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17289460..17298219hg38UCSC Ensembl
chr22:17770350..17779109hg19UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg388760
hg198760
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv815e199
Supporting Variantsessv6215357, essv5996652, essv5984954, essv6090230, essv5628148, essv6056327, essv6176079, essv5786320, essv5611160, essv5939045, essv5872237, essv5812006, essv6081414, essv5527435, essv5810496, essv6381221, essv6247519, essv6492924, essv6265442, essv5641900, essv6452475, essv6058985, essv5647701, essv6023137, essv5478304, essv5844247, essv5562140, essv6339899, essv5847827, essv6023328, essv6191554, essv5933088, essv5890377, essv5748888, essv5693544, essv5682343
SamplesHG00114, HG00249, HG00100, HG00151, HG00233, HG00138, HG00127, HG00243, HG00158, HG00139, HG00148, HG00106, HG00156, HG00232, HG00160, HG00118, HG00137, HG00133, HG00154, HG00149, HG00245, HG01334, HG00152, HG00146, HG00141, HG00246, HG00258, HG00124, HG00155, HG00254, HG00119, HG00136, HG00237, HG00111, HG00259, HG00123
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665340
Frequency
Sample Size1151
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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