A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3375455



Internal ID14875719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:105836113..105836122hg38UCSC Ensembl
Innerchr2:105836104..105836129hg38UCSC Ensembl
Outerchr2:105836095..105836138hg38UCSC Ensembl
chr2:106452569..106452578hg19UCSC Ensembl
Innerchr2:106452560..106452585hg19UCSC Ensembl
Outerchr2:106452551..106452594hg19UCSC Ensembl
chr2:105819001..105819010hg18UCSC Ensembl
Innerchr2:105819017..105818992hg18UCSC Ensembl
Outerchr2:105818983..105819026hg18UCSC Ensembl
Cytoband2q12.2
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 Variantsessv8674404, essv8674402, essv8674403, essv8674401
SamplesNA19239, NA12892, NA19238, NA19240
Known GenesNCK2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3375455
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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