A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674501



Internal ID9940606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42629804..42629981hg38UCSC Ensembl
chr21:44049914..44050091hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6419665, essv5466900, essv5469756, essv5671288, essv6020185, essv5644544, essv5498827, essv6248193, essv6437820, essv5441687, essv5633381, essv6272794, essv5833087, essv5897373, essv5700567, essv5950469, essv6012223, essv5402834, essv5661697, essv5791021, essv5467694, essv6359757, essv6417399, essv5929208, essv6175138, essv5688582, essv5619462, essv6239718, essv6537918, essv6142139, essv6116756, essv6366870, essv5973513, essv5994465, essv5542694, essv6577977, essv6530788, essv6346027, essv6057994, essv6501223, essv6425994, essv5542965, essv5599641
SamplesHG01098, NA12842, NA12843, HG01465, NA20806, HG00327, HG00251, NA19728, HG01488, HG00330, HG01354, NA20287, HG01110, HG01069, HG00108, HG01353, HG00282, HG01384, NA18956, HG00320, NA19776, HG01102, HG01073, HG00250, NA19453, NA12827, HG01334, HG01075, NA19321, NA18941, HG01357, HG01174, HG00237, NA19428, NA19467, NA20803, HG00329, NA20334, HG00267, HG00343, NA19463, HG01437, NA19431
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674501
Frequency
Sample Size1151
Observed Gain0
Observed Loss43
Observed Complex0
Frequencyn/a


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