A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310333



Internal ID14810598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:17114637..17114638hg38UCSC Ensembl
Innerchr1:17114610..17114665hg38UCSC Ensembl
Outerchr1:17114609..17114666hg38UCSC Ensembl
chr1:17441132..17441133hg19UCSC Ensembl
Innerchr1:17441105..17441160hg19UCSC Ensembl
Outerchr1:17441104..17441161hg19UCSC Ensembl
chr1:17313719..17313720hg18UCSC Ensembl
Innerchr1:17313747..17313692hg18UCSC Ensembl
Outerchr1:17313691..17313748hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38228
hg19228
hg18228
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7838900, essv7836931, essv7837611
SamplesNA19239, NA19238, NA19240
Known GenesPADI2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310333
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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