A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7863864



Internal ID13316320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:7818378..7818389hg38UCSC Ensembl
Innerchr2:7818357..7818410hg38UCSC Ensembl
Outerchr2:7818346..7818421hg38UCSC Ensembl
chr2:7958509..7958520hg19UCSC Ensembl
Innerchr2:7958488..7958541hg19UCSC Ensembl
Outerchr2:7958477..7958552hg19UCSC Ensembl
chr2:7875960..7875971hg18UCSC Ensembl
Innerchr2:7875992..7875939hg18UCSC Ensembl
Outerchr2:7875928..7876003hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3445405
Supporting Variants
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7863864
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