A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304862



Internal ID15151810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:195308328..195308329hg38UCSC Ensembl
Innerchr3:195308296..195308361hg38UCSC Ensembl
Outerchr3:195308295..195308362hg38UCSC Ensembl
chr3:195029057..195029058hg19UCSC Ensembl
Innerchr3:195029025..195029090hg19UCSC Ensembl
Outerchr3:195029024..195029091hg19UCSC Ensembl
chr3:196510346..196510347hg18UCSC Ensembl
Innerchr3:196510379..196510314hg18UCSC Ensembl
Outerchr3:196510313..196510380hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg381567
hg191567
hg181567
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7756522, essv7750916, essv7741890, essv7745002, essv7756988, essv7740366, essv7748246, essv7757190
SamplesNA12045, NA18638, NA18951, NA18572, NA18948, NA18573, NA18564, NA18552
Known GenesACAP2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304862
Frequency
Sample Size185
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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