A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3342817



Internal ID15189802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:100684702..100684724hg38UCSC Ensembl
Innerchr2:100684708..100684716hg38UCSC Ensembl
Outerchr2:100684686..100684740hg38UCSC Ensembl
chr2:101301164..101301186hg19UCSC Ensembl
Innerchr2:101301170..101301178hg19UCSC Ensembl
Outerchr2:101301148..101301202hg19UCSC Ensembl
chr2:100667596..100667618hg18UCSC Ensembl
Innerchr2:100667610..100667602hg18UCSC Ensembl
Outerchr2:100667580..100667634hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38226
hg19226
hg18226
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8907528, essv8907526, essv8907523, essv8907529, essv8907527, essv8907525, essv8907522, essv8907521
SamplesNA18947, NA18550, NA18638, NA18537, NA18532, NA18576, NA18608, NA18609
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3342817
Frequency
Sample Size185
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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