A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644817



Internal ID6684881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54754913..54769211hg38UCSC Ensembl
chr19:55266365..55280663hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3814299
hg1914299
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16099147, essv16099164, essv16099156, essv16099167, essv16099154, essv16099141, essv16099162, essv16099168, essv16099143, essv16099157, essv16099144, essv16099158, essv16099146, essv16099169, essv16099149, essv16099151, essv16099161, essv16099139, essv16099163, essv16099171, essv16099145, essv16099165, essv16099150, essv16099159, essv16099152, essv16099140, essv16099160, essv16099170, essv16099142, essv16099153, essv16099148, essv16099172, essv16099166, essv16099155
SamplesHG03593, NA20529, HG01140, NA19374, NA19728, NA20890, HG02485, NA21130, HG00185, HG01281, HG00159, NA19027, NA20818, HG03054, HG03644, HG03760, NA19663, HG03945, NA20525, HG02787, HG00128, NA18542, HG04216, HG03790, HG03949, NA18591, HG04003, HG03789, HG03977, HG00378, HG02768, HG04171, HG02351, NA20509
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644817
Frequency
Sample Size2504
Observed Gain34
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer