A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7736546



Internal ID14801151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:27652870..27652871hg38UCSC Ensembl
Outerchr1:27652680..27653061hg38UCSC Ensembl
Innerchr1:27979381..27979382hg19UCSC Ensembl
Outerchr1:27979191..27979572hg19UCSC Ensembl
Innerchr1:27851969..27851968hg18UCSC Ensembl
Outerchr1:27851778..27852159hg18UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg38382
hg19382
hg18382
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3303011
Supporting Variants
SamplesNA19005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7736546
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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