A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864025



Internal ID12969796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:138464067..138464078hg38UCSC Ensembl
Innerchr2:138464069..138464076hg38UCSC Ensembl
Outerchr2:138464058..138464087hg38UCSC Ensembl
chr2:139221637..139221648hg19UCSC Ensembl
Innerchr2:139221639..139221646hg19UCSC Ensembl
Outerchr2:139221628..139221657hg19UCSC Ensembl
chr2:138938107..138938118hg18UCSC Ensembl
Innerchr2:138938116..138938109hg18UCSC Ensembl
Outerchr2:138938098..138938127hg18UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3435714
Supporting Variants
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864025
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