A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3321908



Internal ID14822189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:127344413..127344425hg38UCSC Ensembl
Innerchr8:127344404..127344434hg38UCSC Ensembl
Outerchr8:127344392..127344443hg38UCSC Ensembl
chr8:128356659..128356671hg19UCSC Ensembl
Innerchr8:128356650..128356680hg19UCSC Ensembl
Outerchr8:128356638..128356689hg19UCSC Ensembl
chr8:128425841..128425853hg18UCSC Ensembl
Innerchr8:128425862..128425832hg18UCSC Ensembl
Outerchr8:128425820..128425871hg18UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38118
hg19118
hg18118
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8942842, essv8942789, essv8942821, essv8942784, essv8942838, essv8942844, essv8942826, essv8942823, essv8942786, essv8942791, essv8942831, essv8942819, essv8942845, essv8942795, essv8942807, essv8942846, essv8942840, essv8942797, essv8942799, essv8942833, essv8942816, essv8942800, essv8942811, essv8942783, essv8942801, essv8942818, essv8942794, essv8942829, essv8942824, essv8942813, essv8942822, essv8942810, essv8942820, essv8942827, essv8942796, essv8942798, essv8942790, essv8942835, essv8942809, essv8942830, essv8942817, essv8942837, essv8942787, essv8942812, essv8942832, essv8942793, essv8942839, essv8942834, essv8942802, essv8942808, essv8942843, essv8942788, essv8942815, essv8942806, essv8942828, essv8942785, essv8942841, essv8942805, essv8942804
SamplesNA18964, NA12154, NA12489, NA12249, NA12750, NA07037, NA18523, NA18952, NA19114, NA11920, NA19093, NA18526, NA11918, NA10847, NA18573, NA18608, NA18542, NA18489, NA19210, NA18507, NA12776, NA12287, NA12414, NA11919, NA12763, NA18912, NA12004, NA18566, NA11994, NA18563, NA18592, NA12761, NA18956, NA18609, NA18547, NA18593, NA12144, NA19190, NA12716, NA18537, NA19129, NA18572, NA19102, NA06986, NA18522, NA18502, NA18942, NA18562, NA18945, NA10851, NA18582, NA18552, NA12156, NA19099, NA12003, NA18944, NA11993, NA12717, NA18980
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3321908
Frequency
Sample Size185
Observed Gain59
Observed Loss0
Observed Complex0
Frequencyn/a


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