A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3403932



Internal ID15250894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:86215787..86215799hg38UCSC Ensembl
Innerchr3:86215778..86215805hg38UCSC Ensembl
Outerchr3:86215769..86215817hg38UCSC Ensembl
chr3:86264937..86264949hg19UCSC Ensembl
Innerchr3:86264928..86264955hg19UCSC Ensembl
Outerchr3:86264919..86264967hg19UCSC Ensembl
chr3:86347627..86347639hg18UCSC Ensembl
Innerchr3:86347645..86347618hg18UCSC Ensembl
Outerchr3:86347609..86347657hg18UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg38881
hg19881
hg18881
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8914097, essv8914082, essv8914076, essv8914096, essv8914081, essv8914077, essv8914084, essv8914086, essv8914085, essv8914095, essv8914087, essv8914078, essv8914092, essv8914074, essv8914093, essv8914088, essv8914079, essv8914083, essv8914090, essv8914089, essv8914075, essv8914094
SamplesNA18502, NA18861, NA18508, NA12751, NA18959, NA18870, NA18510, NA18956, NA18516, NA18579, NA18871, NA18572, NA18912, NA18853, NA19257, NA18523, NA18542, NA19147, NA18517, NA19093, NA18505, NA18577
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3403932
Frequency
Sample Size185
Observed Gain22
Observed Loss0
Observed Complex0
Frequencyn/a


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