A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692280



Internal ID14720215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:28149654..28151152hg38UCSC Ensembl
Innerchr1:28150152..28150654hg38UCSC Ensembl
Outerchr1:28148654..28152152hg38UCSC Ensembl
chr1:28476165..28477663hg19UCSC Ensembl
Innerchr1:28476663..28477165hg19UCSC Ensembl
Outerchr1:28475165..28478663hg19UCSC Ensembl
chr1:28348752..28350250hg18UCSC Ensembl
Innerchr1:28349752..28349250hg18UCSC Ensembl
Outerchr1:28347752..28351250hg18UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3359002
Supporting Variants
SamplesNA19239
Known GenesPTAFR
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692280
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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