A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8674401



Internal ID14689598
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 StatusS
Merged Variantsesv3375455
Supporting Variants
SamplesNA19238
Known GenesNCK2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8674401
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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