A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668324



Internal ID9934429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:45171898..45173090hg38UCSC Ensembl
chr19:45675156..45676348hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg381193
hg191193
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6359321, essv5998345, essv5766930, essv6172506
SamplesNA19000, NA19467, NA19468, NA19463
Known GenesTRAPPC6A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668324
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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