A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3348256



Internal ID15195238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:121180752..121180772hg38UCSC Ensembl
Innerchr2:121180756..121180766hg38UCSC Ensembl
Outerchr2:121180738..121180786hg38UCSC Ensembl
chr2:121938328..121938348hg19UCSC Ensembl
Innerchr2:121938332..121938342hg19UCSC Ensembl
Outerchr2:121938314..121938362hg19UCSC Ensembl
chr2:121654798..121654818hg18UCSC Ensembl
Innerchr2:121654812..121654802hg18UCSC Ensembl
Outerchr2:121654784..121654832hg18UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38251
hg19251
hg18251
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8674434
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3348256
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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