A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310130



Internal ID15157081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:65172430..65172431hg38UCSC Ensembl
Innerchr3:65172413..65172448hg38UCSC Ensembl
Outerchr3:65172412..65172449hg38UCSC Ensembl
chr3:65158105..65158106hg19UCSC Ensembl
Innerchr3:65158088..65158123hg19UCSC Ensembl
Outerchr3:65158087..65158124hg19UCSC Ensembl
chr3:65133145..65133146hg18UCSC Ensembl
Innerchr3:65133163..65133128hg18UCSC Ensembl
Outerchr3:65133127..65133164hg18UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg38291
hg19291
hg18291
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7840383, essv7840586
SamplesNA12891, NA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310130
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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