A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8830796



Internal ID13303848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:13415462..13415462hg38UCSC Ensembl
Innerchr3:13415461..13415463hg38UCSC Ensembl
Outerchr3:13415402..13415512hg38UCSC Ensembl
chr3:13456962..13456962hg19UCSC Ensembl
Innerchr3:13456961..13456963hg19UCSC Ensembl
Outerchr3:13456902..13457012hg19UCSC Ensembl
chr3:13431962..13431962hg18UCSC Ensembl
Innerchr3:13431963..13431961hg18UCSC Ensembl
Outerchr3:13431902..13432012hg18UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg3866
hg1966
hg1866
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3366661
Supporting Variants
SamplesNA12878
Known GenesNUP210
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8830796
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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