A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673373



Internal ID9592792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:42530384..42533943hg38UCSC Ensembl
chr19:43034536..43038095hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg383560
hg193560
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6090419, essv6140204, essv5877103, essv6048502, essv5557031, essv6485222, essv5577803, essv5766582
SamplesNA20278, NA19920, NA18505, HG01551, NA19247, NA19921, NA18867, HG01125
Known GenesLIPE-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673373
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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