A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3381795



Internal ID14882071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:161762229..161762300hg38UCSC Ensembl
Innerchr2:161762233..161762296hg38UCSC Ensembl
Outerchr2:161762162..161762367hg38UCSC Ensembl
chr2:162618739..162618810hg19UCSC Ensembl
Innerchr2:162618743..162618806hg19UCSC Ensembl
Outerchr2:162618672..162618877hg19UCSC Ensembl
chr2:162326985..162327056hg18UCSC Ensembl
Innerchr2:162327052..162326989hg18UCSC Ensembl
Outerchr2:162326918..162327123hg18UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg38201
hg19201
hg18201
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8909275
SamplesNA18593
Known GenesSLC4A10
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3381795
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer