A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614999



Internal ID7001888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:129501314..129503363hg38UCSC Ensembl
Innerchr7:129501314..129503363hg38UCSC Ensembl
Outerchr7:129500959..129503714hg38UCSC Ensembl
chr7:129141155..129143204hg19UCSC Ensembl
Innerchr7:129141155..129143204hg19UCSC Ensembl
Outerchr7:129140800..129143555hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg382050
hg192050
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12966836, essv12966840, essv12966834, essv12966884, essv12966873, essv12966858, essv12966826, essv12966859, essv12966850, essv12966845, essv12966879, essv12966869, essv12966867, essv12966829, essv12966827, essv12966846, essv12966839, essv12966886, essv12966880, essv12966852, essv12966876, essv12966848, essv12966883, essv12966855, essv12966838, essv12966851, essv12966864, essv12966862, essv12966844, essv12966847, essv12966870, essv12966841, essv12966865, essv12966881, essv12966842, essv12966875, essv12966863, essv12966853, essv12966830, essv12966866, essv12966828, essv12966832, essv12966831, essv12966849, essv12966877, essv12966835, essv12966854, essv12966878, essv12966856, essv12966872, essv12966843, essv12966833, essv12966874, essv12966837, essv12966871, essv12966861, essv12966825, essv12966857, essv12966860, essv12966882, essv12966868, essv12966885
SamplesHG03096, HG03559, HG03121, HG02583, HG02702, NA19704, NA18917, NA19355, NA18519, HG02811, NA19315, HG02952, HG03091, HG02541, HG02840, HG03578, HG03479, HG03045, NA19026, HG02571, NA19445, HG02716, HG03160, HG03061, HG03547, HG01989, HG03159, HG02968, HG03563, NA19461, NA19118, HG02283, NA18853, NA19338, HG02484, HG02813, HG02799, HG03539, NA19473, HG02983, HG01915, NA19435, NA19037, HG02837, NA19144, NA19310, HG01620, HG03473, HG03432, NA19248, NA19474, HG02013, NA19780, NA19711, HG02051, NA19030, HG02763, NA18505, NA19146, HG02805, HG02808, HG03196
Known GenesSMKR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614999
Frequency
Sample Size2504
Observed Gain0
Observed Loss62
Observed Complex0
Frequencyn/a


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