A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9595680



Internal ID14359441
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 StatusS
Merged Variantsesv3341362
Supporting Variants
SamplesNA18970
Known GenesSLC44A3
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9595680
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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