A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3436312



Internal ID14936579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:72117120..72117132hg38UCSC Ensembl
Innerchr5:72117111..72117141hg38UCSC Ensembl
Outerchr5:72117099..72117150hg38UCSC Ensembl
chr5:71412947..71412959hg19UCSC Ensembl
Innerchr5:71412938..71412968hg19UCSC Ensembl
Outerchr5:71412926..71412977hg19UCSC Ensembl
chr5:71448703..71448715hg18UCSC Ensembl
Innerchr5:71448724..71448694hg18UCSC Ensembl
Outerchr5:71448682..71448733hg18UCSC Ensembl
Cytoband5q13.2
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 Variantsessv8924816, essv8924811, essv8924798, essv8924805, essv8924807, essv8924818, essv8924808, essv8924801, essv8924809, essv8924830, essv8924821, essv8924820, essv8924815, essv8924799, essv8924831, essv8924817, essv8924800, essv8924819, essv8924822, essv8924804, essv8924806, essv8924810, essv8924828, essv8924827, essv8924826, essv8924812, essv8924824, essv8924802, essv8924832, essv8924829, essv8924813, essv8924823
SamplesNA18947, NA18508, NA18980, NA18603, NA18959, NA18526, NA18550, NA18558, NA18942, NA19138, NA18498, NA18964, NA18638, NA19210, NA18956, NA18516, NA18871, NA18948, NA18907, NA18499, NA18856, NA18853, NA18593, NA18542, NA18909, NA19108, NA18961, NA19147, NA18501, NA18552, NA19129, NA18965
Known GenesMAP1B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3436312
Frequency
Sample Size185
Observed Gain32
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer