A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304629



Internal ID15151577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:116582750..116582751hg38UCSC Ensembl
Innerchr3:116582658..116582843hg38UCSC Ensembl
Outerchr3:116582657..116582844hg38UCSC Ensembl
chr3:116301597..116301598hg19UCSC Ensembl
Innerchr3:116301505..116301690hg19UCSC Ensembl
Outerchr3:116301504..116301691hg19UCSC Ensembl
chr3:117784287..117784288hg18UCSC Ensembl
Innerchr3:117784380..117784195hg18UCSC Ensembl
Outerchr3:117784194..117784381hg18UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg3859
hg1959
hg1859
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7759612, essv7750874, essv7758648, essv7742900, essv7747781, essv7740927, essv7754383, essv7761107, essv7760641, essv7746594, essv7754743, essv7753904, essv7752047
SamplesNA18947, NA11995, NA18861, NA10851, NA07346, NA18944, NA12287, NA18948, NA19225, NA18858, NA18909, NA18517, NA12154
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304629
Frequency
Sample Size185
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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