A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8652080



Internal ID14754921
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 StatusS
Merged Variantsesv3446306
Supporting Variants
SamplesNA19240
Known GenesTHEMIS2
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8652080
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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