A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8652087



Internal ID14754911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3693688..3694797hg38UCSC Ensembl
Innerchr1:3693688..3694797hg38UCSC Ensembl
Outerchr1:3692832..3695577hg38UCSC Ensembl
chr1:3610252..3611361hg19UCSC Ensembl
Innerchr1:3610252..3611361hg19UCSC Ensembl
Outerchr1:3609396..3612141hg19UCSC Ensembl
chr1:3600112..3601221hg18UCSC Ensembl
Innerchr1:3600112..3601221hg18UCSC Ensembl
Outerchr1:3599256..3602001hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg381110
hg191110
hg181110
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3382922
Supporting Variants
SamplesNA19240
Known GenesTP73
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8652087
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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