A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7750502



Internal ID15122851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:39209811..39209812hg38UCSC Ensembl
Innerchr3:39209780..39209843hg38UCSC Ensembl
Outerchr3:39209779..39209844hg38UCSC Ensembl
chr3:39251302..39251303hg19UCSC Ensembl
Innerchr3:39251271..39251334hg19UCSC Ensembl
Outerchr3:39251270..39251335hg19UCSC Ensembl
chr3:39226306..39226307hg18UCSC Ensembl
Innerchr3:39226338..39226275hg18UCSC Ensembl
Outerchr3:39226274..39226339hg18UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg38216
hg19216
hg18216
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3306103
Supporting Variants
SamplesNA19257
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7750502
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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