A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647111



Internal ID6687167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43739379..43741033hg38UCSC Ensembl
Innerchr21:43739379..43741033hg38UCSC Ensembl
Outerchr21:43739197..43741233hg38UCSC Ensembl
chr21:45159260..45160914hg19UCSC Ensembl
Innerchr21:45159260..45160914hg19UCSC Ensembl
Outerchr21:45159078..45161114hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381655
hg191655
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16328914, essv16328918, essv16328952, essv16328909, essv16328921, essv16328915, essv16328954, essv16328948, essv16328926, essv16328938, essv16328917, essv16328951, essv16328946, essv16328920, essv16328950, essv16328913, essv16328934, essv16328940, essv16328924, essv16328905, essv16328937, essv16328932, essv16328910, essv16328916, essv16328908, essv16328903, essv16328925, essv16328931, essv16328923, essv16328907, essv16328904, essv16328944, essv16328935, essv16328928, essv16328947, essv16328929, essv16328930, essv16328912, essv16328942, essv16328949, essv16328939, essv16328919, essv16328943, essv16328911, essv16328953, essv16328956, essv16328941, essv16328936, essv16328933, essv16328945, essv16328906, essv16328927, essv16328955, essv16328922
SamplesNA19648, NA12814, NA12414, NA20514, NA11920, NA19920, NA20814, HG01500, HG00356, HG00122, HG01064, NA20540, NA19904, HG02603, HG01628, HG00236, HG01284, NA20764, NA20533, HG01353, NA12760, NA20800, HG00245, HG00190, HG01344, NA20521, HG02450, NA20862, HG01119, NA20770, HG01630, NA20525, HG00273, HG01536, NA20538, HG01705, HG01680, HG01936, HG03240, NA19434, HG00353, HG01362, HG02304, HG00278, HG00256, HG03084, HG02235, HG02107, HG01055, HG00123, NA20503, HG01112, HG01437, HG01507
Known GenesPDXK
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647111
Frequency
Sample Size2504
Observed Gain0
Observed Loss54
Observed Complex0
Frequencyn/a


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