A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3341362



Internal ID14841631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:94877135..94877154hg38UCSC Ensembl
Innerchr1:94877131..94877158hg38UCSC Ensembl
Outerchr1:94877112..94877177hg38UCSC Ensembl
chr1:95342691..95342710hg19UCSC Ensembl
Innerchr1:95342687..95342714hg19UCSC Ensembl
Outerchr1:95342668..95342733hg19UCSC Ensembl
chr1:95115279..95115298hg18UCSC Ensembl
Innerchr1:95115302..95115275hg18UCSC Ensembl
Outerchr1:95115256..95115321hg18UCSC 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 Variantsessv9595691, essv9595680
SamplesNA11894, NA18970
Known GenesSLC44A3
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3341362
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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