A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644549



Internal ID7031304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:47293073..47298014hg38UCSC Ensembl
Innerchr19:47293573..47297514hg38UCSC Ensembl
Outerchr19:47292073..47299014hg38UCSC Ensembl
chr19:47796330..47801271hg19UCSC Ensembl
Innerchr19:47796830..47800771hg19UCSC Ensembl
Outerchr19:47795330..47802271hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg384942
hg194942
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16071041, essv16071038, essv16071044, essv16071039, essv16071028, essv16071029, essv16071037, essv16071040, essv16071030, essv16071032, essv16071033, essv16071042, essv16071048, essv16071047, essv16071043, essv16071036, essv16071034, essv16071045, essv16071035, essv16071031, essv16071046
SamplesHG02614, NA19222, HG03105, HG02281, HG03212, NA19027, HG02334, HG02554, HG03136, NA19042, NA19031, HG03024, NA19452, NA18858, HG02484, HG02330, HG03461, NA19310, HG03432, HG03442, HG02808
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644549
Frequency
Sample Size2504
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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