A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8675679



Internal ID14700245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:78590744..78590780hg38UCSC Ensembl
Innerchr4:78590741..78590781hg38UCSC Ensembl
Outerchr4:78590705..78590817hg38UCSC Ensembl
chr4:79511898..79511934hg19UCSC Ensembl
Innerchr4:79511895..79511935hg19UCSC Ensembl
Outerchr4:79511859..79511971hg19UCSC Ensembl
chr4:79730922..79730958hg18UCSC Ensembl
Innerchr4:79730959..79730919hg18UCSC Ensembl
Outerchr4:79730883..79730995hg18UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg38281
hg19281
hg18281
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3352391
Supporting Variants
SamplesNA19239
Known GenesANXA3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8675679
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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