A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3337224



Internal ID15184212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:38817685..38817704hg38UCSC Ensembl
Innerchr2:38817681..38817708hg38UCSC Ensembl
Outerchr2:38817662..38817727hg38UCSC Ensembl
chr2:39044827..39044846hg19UCSC Ensembl
Innerchr2:39044823..39044850hg19UCSC Ensembl
Outerchr2:39044804..39044869hg19UCSC Ensembl
chr2:38898331..38898350hg18UCSC Ensembl
Innerchr2:38898354..38898327hg18UCSC Ensembl
Outerchr2:38898308..38898373hg18UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9600957
SamplesNA12874
Known GenesDHX57
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3337224
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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