A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663048



Internal ID9929153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:42786042..43283767hg38UCSC Ensembl
chr19:43290194..43787919hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38497726
hg19497726
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6422067
SamplesNA18535
Known GenesLOC100289650, LOC284344, PSG1, PSG10P, PSG11, PSG2, PSG4, PSG5, PSG6, PSG7, PSG9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663048
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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