A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3357039



Internal ID14857302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:94877134..94877144hg38UCSC Ensembl
Innerchr1:94877126..94877150hg38UCSC Ensembl
Outerchr1:94877116..94877160hg38UCSC Ensembl
chr1:95342690..95342700hg19UCSC Ensembl
Innerchr1:95342682..95342706hg19UCSC Ensembl
Outerchr1:95342672..95342716hg19UCSC Ensembl
chr1:95115278..95115288hg18UCSC Ensembl
Innerchr1:95115294..95115270hg18UCSC Ensembl
Outerchr1:95115260..95115304hg18UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38261
hg19261
hg18261
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8900221, essv8900218, essv8900210, essv8900228, essv8900211, essv8900219, essv8900213, essv8900231, essv8900227, essv8900223, essv8900233, essv8900229, essv8900220, essv8900212, essv8900234, essv8900224, essv8900235, essv8900222, essv8900232, essv8900209, essv8900217, essv8900230, essv8900216, essv8900215
SamplesNA12489, NA18545, NA18603, NA18948, NA18608, NA12776, NA12044, NA18943, NA12414, NA11919, NA11994, NA18563, NA18609, NA18547, NA18973, NA11995, NA18572, NA18558, NA18940, NA18582, NA11992, NA12003, NA18571, NA12717
Known GenesSLC44A3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3357039
Frequency
Sample Size185
Observed Gain24
Observed Loss0
Observed Complex0
Frequencyn/a


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