A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3355674



Internal ID14855938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:201289901..201293199hg38UCSC Ensembl
Innerchr1:201290901..201292199hg38UCSC Ensembl
Outerchr1:201288901..201294199hg38UCSC Ensembl
chr1:201259029..201262327hg19UCSC Ensembl
Innerchr1:201260029..201261327hg19UCSC Ensembl
Outerchr1:201258029..201263327hg19UCSC Ensembl
chr1:199525652..199528950hg18UCSC Ensembl
Innerchr1:199526652..199527950hg18UCSC Ensembl
Outerchr1:199524652..199529950hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg383299
hg193299
hg183299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692098
SamplesNA19239
Known GenesPKP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3355674
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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