A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658332



Internal ID9577751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:38031576..38032617hg38UCSC Ensembl
chr19:38522216..38523257hg19UCSC Ensembl
Cytoband19q13.13
Allele length
AssemblyAllele length
hg381042
hg191042
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6161286
SamplesNA19789
Known GenesSIPA1L3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658332
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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