A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3446306



Internal ID14946570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:27878334..27879152hg38UCSC Ensembl
Innerchr1:27878334..27879152hg38UCSC Ensembl
Outerchr1:27878157..27879736hg38UCSC Ensembl
chr1:28204845..28205663hg19UCSC Ensembl
Innerchr1:28204845..28205663hg19UCSC Ensembl
Outerchr1:28204668..28206247hg19UCSC Ensembl
chr1:28077432..28078250hg18UCSC Ensembl
Innerchr1:28077432..28078250hg18UCSC Ensembl
Outerchr1:28077255..28078834hg18UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg38819
hg19819
hg18819
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652080
SamplesNA19240
Known GenesTHEMIS2
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3446306
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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