A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594689



Internal ID6982009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:234351232..234352851hg38UCSC Ensembl
Innerchr2:234351233..234352851hg38UCSC Ensembl
Outerchr2:234351232..234352852hg38UCSC Ensembl
chr2:235259876..235261495hg19UCSC Ensembl
Innerchr2:235259877..235261495hg19UCSC Ensembl
Outerchr2:235259876..235261496hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg381620
hg191620
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10879822, essv10879895, essv10879872, essv10879903, essv10879843, essv10879830, essv10879875, essv10879849, essv10879870, essv10879850, essv10879845, essv10879821, essv10879887, essv10879878, essv10879883, essv10879851, essv10879869, essv10879900, essv10879831, essv10879884, essv10879891, essv10879892, essv10879896, essv10879882, essv10879874, essv10879899, essv10879819, essv10879853, essv10879824, essv10879848, essv10879818, essv10879825, essv10879846, essv10879835, essv10879836, essv10879816, essv10879867, essv10879852, essv10879841, essv10879827, essv10879844, essv10879889, essv10879820, essv10879823, essv10879866, essv10879888, essv10879902, essv10879873, essv10879832, essv10879839, essv10879864, essv10879904, essv10879861, essv10879856, essv10879879, essv10879838, essv10879854, essv10879890, essv10879859, essv10879828, essv10879855, essv10879817, essv10879898, essv10879871, essv10879880, essv10879857, essv10879881, essv10879876, essv10879847, essv10879868, essv10879885, essv10879865, essv10879840, essv10879826, essv10879862, essv10879858, essv10879863, essv10879842, essv10879901, essv10879829, essv10879834, essv10879877, essv10879894, essv10879833, essv10879893, essv10879886, essv10879837, essv10879860, essv10879897
SamplesNA19141, NA19700, HG02628, HG01462, NA19399, NA19332, NA19020, NA19350, HG02804, HG02476, HG03515, NA20346, HG02536, NA19190, NA18870, NA19315, HG02952, NA20317, NA19131, HG03342, HG02645, HG03246, HG03578, HG03040, NA19923, NA19041, NA20278, NA19207, NA19385, NA19317, NA19026, NA20412, HG02946, NA18864, NA19456, HG03394, NA19451, HG03270, HG03169, HG03120, HG02439, NA19908, NA19707, HG03547, HG03291, NA19236, HG02470, HG02878, HG02555, HG03382, HG02881, NA19338, HG03391, HG01956, HG02484, HG01896, HG03064, HG02255, NA19206, NA19440, NA19309, NA19108, NA19256, NA18517, HG03437, NA19434, HG02010, HG02983, HG01894, HG02721, NA19380, HG02839, HG02814, NA19323, NA19143, HG03442, HG03025, HG02646, NA19468, HG02938, HG02107, HG02462, NA19770, HG02013, NA19711, HG02763, HG02861, HG02808, HG03196
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594689
Frequency
Sample Size2504
Observed Gain0
Observed Loss89
Observed Complex0
Frequencyn/a


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