A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3433395



Internal ID15280350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230308893..230311291hg38UCSC Ensembl
Innerchr2:230309893..230310291hg38UCSC Ensembl
Outerchr2:230307893..230312291hg38UCSC Ensembl
chr2:231173608..231176006hg19UCSC Ensembl
Innerchr2:231174608..231175006hg19UCSC Ensembl
Outerchr2:231172608..231177006hg19UCSC Ensembl
chr2:230881852..230884250hg18UCSC Ensembl
Innerchr2:230882852..230883250hg18UCSC Ensembl
Outerchr2:230880852..230885250hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg382399
hg192399
hg182399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8693495
SamplesNA19239
Known GenesSP140
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3433395
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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