A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3378361



Internal ID14878630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3694028..3695026hg38UCSC Ensembl
Innerchr1:3694027..3695027hg38UCSC Ensembl
Outerchr1:3693028..3696026hg38UCSC Ensembl
chr1:3610592..3611590hg19UCSC Ensembl
Innerchr1:3610591..3611591hg19UCSC Ensembl
Outerchr1:3609592..3612590hg19UCSC Ensembl
chr1:3600452..3601450hg18UCSC Ensembl
Innerchr1:3601451..3600451hg18UCSC Ensembl
Outerchr1:3599452..3602450hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38999
hg19999
hg18999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692311
SamplesNA19238
Known GenesTP73
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3378361
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