A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8652078



Internal ID15101575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:25529201..25529584hg38UCSC Ensembl
Innerchr1:25529201..25529584hg38UCSC Ensembl
Outerchr1:25528056..25531571hg38UCSC Ensembl
chr1:25855692..25856075hg19UCSC Ensembl
Innerchr1:25855692..25856075hg19UCSC Ensembl
Outerchr1:25854547..25858062hg19UCSC Ensembl
chr1:25728279..25728662hg18UCSC Ensembl
Innerchr1:25728279..25728662hg18UCSC Ensembl
Outerchr1:25727134..25730649hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38384
hg19384
hg18384
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3450111
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8652078
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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