A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3380512



Internal ID15227484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:172688323..172688369hg38UCSC Ensembl
Innerchr2:172688335..172688355hg38UCSC Ensembl
Outerchr2:172688311..172688381hg38UCSC Ensembl
chr2:173553051..173553097hg19UCSC Ensembl
Innerchr2:173553063..173553083hg19UCSC Ensembl
Outerchr2:173553039..173553109hg19UCSC Ensembl
chr2:173261297..173261343hg18UCSC Ensembl
Innerchr2:173261309..173261329hg18UCSC Ensembl
Outerchr2:173261285..173261355hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38248
hg19248
hg18248
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8909431, essv8909430, essv8909432
SamplesNA11918, NA10847, NA12043
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3380512
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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