A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670217



Internal ID9589636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:38186632..38188662hg38UCSC Ensembl
chr19:38677272..38679302hg19UCSC Ensembl
Cytoband19q13.13
Allele length
AssemblyAllele length
hg382031
hg192031
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6302095, essv5741232, essv6410652
SamplesNA19399, NA19396, HG00554
Known GenesSIPA1L3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670217
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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