A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3382096



Internal ID14882372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:94869677..94869696hg38UCSC Ensembl
Innerchr1:94869673..94869700hg38UCSC Ensembl
Outerchr1:94869654..94869719hg38UCSC Ensembl
chr1:95335233..95335252hg19UCSC Ensembl
Innerchr1:95335229..95335256hg19UCSC Ensembl
Outerchr1:95335210..95335275hg19UCSC Ensembl
chr1:95107821..95107840hg18UCSC Ensembl
Innerchr1:95107844..95107817hg18UCSC Ensembl
Outerchr1:95107798..95107863hg18UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9595669
SamplesNA12249
Known GenesSLC44A3
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3382096
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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