A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3321924



Internal ID15168898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:126102517..126102523hg38UCSC Ensembl
Innerchr6:126102509..126102531hg38UCSC Ensembl
Outerchr6:126102503..126102537hg38UCSC Ensembl
chr6:126423663..126423669hg19UCSC Ensembl
Innerchr6:126423655..126423677hg19UCSC Ensembl
Outerchr6:126423649..126423683hg19UCSC Ensembl
chr6:126465356..126465362hg18UCSC Ensembl
Innerchr6:126465370..126465348hg18UCSC Ensembl
Outerchr6:126465342..126465376hg18UCSC Ensembl
Cytoband6q22.32
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 Variantsessv8932885, essv8932887, essv8932905, essv8932883, essv8932898, essv8932890, essv8932902, essv8932893, essv8932904, essv8932882, essv8932907, essv8932888, essv8932889, essv8932901, essv8932886, essv8932896, essv8932900, essv8932884, essv8932899, essv8932897, essv8932906, essv8932894, essv8932895
SamplesNA18502, NA18508, NA18980, NA19005, NA18944, NA18940, NA18550, NA19138, NA19114, NA18499, NA12249, NA19257, NA18523, NA18858, NA18593, NA19108, NA18517, NA07051, NA19116, NA18552, NA18505, NA19129, NA18522
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3321924
Frequency
Sample Size185
Observed Gain23
Observed Loss0
Observed Complex0
Frequencyn/a


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