A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3325357



Internal ID14825638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:82878506..82878517hg38UCSC Ensembl
Innerchr16:82878496..82878524hg38UCSC Ensembl
Outerchr16:82878485..82878535hg38UCSC Ensembl
chr16:82912111..82912122hg19UCSC Ensembl
Innerchr16:82912101..82912129hg19UCSC Ensembl
Outerchr16:82912090..82912140hg19UCSC Ensembl
chr16:81469612..81469623hg18UCSC Ensembl
Innerchr16:81469630..81469602hg18UCSC Ensembl
Outerchr16:81469591..81469641hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8970843, essv8970829, essv8970861, essv8970828, essv8970846, essv8970841, essv8970842, essv8970849, essv8970893, essv8970824, essv8970876, essv8970856, essv8970867, essv8970863, essv8970831, essv8970870, essv8970889, essv8970864, essv8970886, essv8970872, essv8970854, essv8970860, essv8970857, essv8970848, essv8970850, essv8970866, essv8970838, essv8970853, essv8970874, essv8970835, essv8970884, essv8970890, essv8970855, essv8970877, essv8970823, essv8970852, essv8970865, essv8970883, essv8970832, essv8970887, essv8970833, essv8970845, essv8970868, essv8970834, essv8970881, essv8970859, essv8970888, essv8970851, essv8970839, essv8970844, essv8970885, essv8970862, essv8970882, essv8970875, essv8970837, essv8970873, essv8970827, essv8970840, essv8970830, essv8970871, essv8970879, essv8970826, essv8970878
SamplesNA18870, NA18964, NA12489, NA18861, NA18520, NA18951, NA18871, NA18561, NA18523, NA18952, NA18501, NA19093, NA18526, NA18550, NA18570, NA10847, NA18603, NA18948, NA18516, NA18517, NA18573, NA18608, NA18542, NA19257, NA18965, NA18505, NA18943, NA12763, NA18508, NA18566, NA18576, NA18563, NA18592, NA12761, NA18638, NA18956, NA18609, NA18973, NA18593, NA19190, NA12716, NA18537, NA19172, NA18572, NA06986, NA18522, NA18558, NA18564, NA18858, NA18942, NA18961, NA18562, NA18579, NA18945, NA18940, NA18582, NA19138, NA18577, NA18499, NA18571, NA18853, NA18555, NA07000
Known GenesCDH13
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3325357
Frequency
Sample Size185
Observed Gain63
Observed Loss0
Observed Complex0
Frequencyn/a


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