A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3335001



Internal ID15181991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:35588864..35591762hg38UCSC Ensembl
Innerchr1:35589864..35590762hg38UCSC Ensembl
Outerchr1:35587864..35592762hg38UCSC Ensembl
chr1:36054465..36057363hg19UCSC Ensembl
Innerchr1:36055465..36056363hg19UCSC Ensembl
Outerchr1:36053465..36058363hg19UCSC Ensembl
chr1:35827052..35829950hg18UCSC Ensembl
Innerchr1:35828052..35828950hg18UCSC Ensembl
Outerchr1:35826052..35830950hg18UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg382899
hg192899
hg182899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692309
SamplesNA19240
Known GenesTFAP2E
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3335001
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