A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3382615



Internal ID14882891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3162728..3163426hg38UCSC Ensembl
Innerchr1:3162727..3163427hg38UCSC Ensembl
Outerchr1:3161728..3164426hg38UCSC Ensembl
chr1:3079292..3079990hg19UCSC Ensembl
Innerchr1:3079291..3079991hg19UCSC Ensembl
Outerchr1:3078292..3080990hg19UCSC Ensembl
chr1:3069152..3069850hg18UCSC Ensembl
Innerchr1:3069851..3069151hg18UCSC Ensembl
Outerchr1:3068152..3070850hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38699
hg19699
hg18699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692291
SamplesNA19239
Known GenesPRDM16
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3382615
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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