A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3427359



Internal ID15274315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:108328770..108328788hg38UCSC Ensembl
Innerchr3:108328767..108328788hg38UCSC Ensembl
Outerchr3:108328749..108328806hg38UCSC Ensembl
chr3:108047617..108047635hg19UCSC Ensembl
Innerchr3:108047614..108047635hg19UCSC Ensembl
Outerchr3:108047596..108047653hg19UCSC Ensembl
chr3:109530307..109530325hg18UCSC Ensembl
Innerchr3:109530325..109530304hg18UCSC Ensembl
Outerchr3:109530286..109530343hg18UCSC Ensembl
Cytoband3q13.13
Allele length
AssemblyAllele length
hg38892
hg19892
hg18892
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8674923, essv8674924
SamplesNA19238, NA19240
Known GenesHHLA2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3427359
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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