A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307682



Internal ID15154630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:56635203..56635204hg38UCSC Ensembl
Innerchr1:56635105..56635302hg38UCSC Ensembl
Outerchr1:56635104..56635303hg38UCSC Ensembl
chr1:57100876..57100877hg19UCSC Ensembl
Innerchr1:57100778..57100975hg19UCSC Ensembl
Outerchr1:57100777..57100976hg19UCSC Ensembl
chr1:56873464..56873465hg18UCSC Ensembl
Innerchr1:56873563..56873366hg18UCSC Ensembl
Outerchr1:56873365..56873564hg18UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg381218
hg191218
hg181218
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7748923, essv7758234, essv7756594, essv7755491, essv7743255
SamplesNA18916, NA18571, NA18638, NA19108, NA18522
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307682
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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