A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3445641



Internal ID15292593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:92136023..92136736hg38UCSC Ensembl
Innerchr2:92136022..92136737hg38UCSC Ensembl
Outerchr2:92135913..92136856hg38UCSC Ensembl
chr2:92324049..92324762hg19UCSC Ensembl
Innerchr2:92324048..92324763hg19UCSC Ensembl
Outerchr2:92323939..92324882hg19UCSC Ensembl
chr2:91687776..91688489hg18UCSC Ensembl
Innerchr2:91688490..91687775hg18UCSC Ensembl
Outerchr2:91687666..91688609hg18UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg38714
hg19714
hg18714
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8809146
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3445641
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