A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659864



Internal ID9579283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:49821837..49822156hg38UCSC Ensembl
chr19:50325094..50325413hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5566221, essv5651713, essv6205993, essv6427876, essv5599973, essv5991208, essv5839559, essv6590973, essv5435688, essv5716946, essv5636080, essv5693895, essv5986474, essv6204959, essv6377641, essv6375885, essv5935801
SamplesNA20294, NA19355, NA20332, NA19457, NA19313, NA18868, NA19372, NA19451, NA18499, NA18856, NA18523, NA19428, NA19467, NA19248, HG01055, NA19770, NA20322
Known GenesMED25
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659864
Frequency
Sample Size1151
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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