A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7760306



Internal ID14523666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:33179655..33179656hg38UCSC Ensembl
Innerchr2:33179627..33179684hg38UCSC Ensembl
Outerchr2:33179626..33179685hg38UCSC Ensembl
chr2:33404722..33404723hg19UCSC Ensembl
Innerchr2:33404694..33404751hg19UCSC Ensembl
Outerchr2:33404693..33404752hg19UCSC Ensembl
chr2:33258226..33258227hg18UCSC Ensembl
Innerchr2:33258255..33258198hg18UCSC Ensembl
Outerchr2:33258197..33258256hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38265
hg19265
hg18265
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3306594
Supporting Variants
SamplesNA19116
Known GenesLTBP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7760306
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