A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661748



Internal ID9927853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55542425..55542684hg38UCSC Ensembl
chr19:56053791..56054050hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5449388, essv6315798, essv5521664, essv6374775, essv5877815, essv5769547, essv6267358, essv5886585
SamplesHG01359, HG00737, NA20287, HG00281, HG00331, HG00684, HG00375, NA18624
Known GenesSBK3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661748
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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