A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694512



Internal ID14695421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:8069325..8070523hg38UCSC Ensembl
Innerchr4:8069523..8070325hg38UCSC Ensembl
Outerchr4:8068325..8071523hg38UCSC Ensembl
chr4:8071052..8072250hg19UCSC Ensembl
Innerchr4:8071250..8072052hg19UCSC Ensembl
Outerchr4:8070052..8073250hg19UCSC Ensembl
chr4:8121952..8123150hg18UCSC Ensembl
Innerchr4:8122952..8122150hg18UCSC Ensembl
Outerchr4:8120952..8124150hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3388002
Supporting Variants
SamplesNA19239
Known GenesABLIM2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694512
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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