A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659430



Internal ID9925536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:47147305..47148864hg38UCSC Ensembl
chr19:47650562..47652121hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg381560
hg191560
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6029301, essv5424048, essv5414471, essv5753538, essv5491291, essv5437189, essv6226026, essv5414125, essv5636557
SamplesNA12399, NA12413, HG00271, NA20796, NA07347, HG00243, NA20818, NA06986, HG00372
Known GenesSAE1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659430
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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