A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694250



Internal ID15042517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:152539950..152541348hg38UCSC Ensembl
Innerchr4:152540348..152540950hg38UCSC Ensembl
Outerchr4:152538950..152542348hg38UCSC Ensembl
chr4:153461102..153462500hg19UCSC Ensembl
Innerchr4:153461500..153462102hg19UCSC Ensembl
Outerchr4:153460102..153463500hg19UCSC Ensembl
chr4:153680552..153681950hg18UCSC Ensembl
Innerchr4:153681552..153680950hg18UCSC Ensembl
Outerchr4:153679552..153682950hg18UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3439206
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694250
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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