A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647089



Internal ID6687145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42715439..42719677hg38UCSC Ensembl
Innerchr21:42715441..42719676hg38UCSC Ensembl
Outerchr21:42715438..42719679hg38UCSC Ensembl
chr21:44135549..44139787hg19UCSC Ensembl
Innerchr21:44135551..44139786hg19UCSC Ensembl
Outerchr21:44135548..44139789hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg384239
hg194239
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16324876, essv16324883, essv16324858, essv16324886, essv16324882, essv16324891, essv16324844, essv16324862, essv16324885, essv16324890, essv16324866, essv16324884, essv16324875, essv16324893, essv16324853, essv16324847, essv16324860, essv16324889, essv16324852, essv16324909, essv16324861, essv16324904, essv16324878, essv16324908, essv16324905, essv16324877, essv16324871, essv16324859, essv16324887, essv16324900, essv16324902, essv16324854, essv16324864, essv16324855, essv16324848, essv16324874, essv16324869, essv16324867, essv16324899, essv16324901, essv16324896, essv16324846, essv16324898, essv16324850, essv16324897, essv16324863, essv16324880, essv16324872, essv16324842, essv16324888, essv16324843, essv16324868, essv16324881, essv16324906, essv16324903, essv16324857, essv16324873, essv16324892, essv16324865, essv16324870, essv16324907, essv16324849, essv16324851, essv16324845, essv16324894, essv16324856, essv16324879, essv16324895
SamplesHG01607, HG00380, NA11881, HG00157, HG03785, HG03861, NA11930, NA21125, HG02649, HG01284, NA20859, HG00234, NA07056, HG02450, HG04186, NA21130, NA21104, HG01708, HG01500, HG04001, HG03765, HG03229, NA20521, HG01682, HG03863, HG00244, NA20532, NA20896, HG02684, HG04188, HG01392, HG00638, HG00130, HG01122, NA19792, NA20783, HG03681, HG04194, NA20762, HG03851, HG01628, HG01747, NA21102, HG03895, HG03869, HG03731, HG00159, HG00268, HG03919, HG04239, HG02787, NA20828, HG04134, HG01779, NA20911, HG00181, HG03875, NA20289, HG03872, NA21089, HG01886, HG03607, HG01164, HG01177, HG00641, HG03837, HG00327, HG01617
Known GenesPDE9A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647089
Frequency
Sample Size2504
Observed Gain0
Observed Loss68
Observed Complex0
Frequencyn/a


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