A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8740958



Internal ID15085444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:28182031..28182031hg38UCSC Ensembl
Innerchr1:28182030..28182032hg38UCSC Ensembl
Outerchr1:28181981..28182081hg38UCSC Ensembl
chr1:28508542..28508542hg19UCSC Ensembl
Innerchr1:28508541..28508543hg19UCSC Ensembl
Outerchr1:28508492..28508592hg19UCSC Ensembl
chr1:28381129..28381129hg18UCSC Ensembl
Innerchr1:28381130..28381128hg18UCSC Ensembl
Outerchr1:28381079..28381179hg18UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg38919
hg19919
hg18919
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3370107
Supporting Variants
SamplesNA19240
Known GenesPTAFR
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8740958
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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