A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694503



Internal ID15044993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:7639525..7640623hg38UCSC Ensembl
Innerchr4:7639623..7640525hg38UCSC Ensembl
Outerchr4:7638525..7641623hg38UCSC Ensembl
chr4:7641252..7642350hg19UCSC Ensembl
Innerchr4:7641350..7642252hg19UCSC Ensembl
Outerchr4:7640252..7643350hg19UCSC Ensembl
chr4:7692152..7693250hg18UCSC Ensembl
Innerchr4:7693152..7692250hg18UCSC Ensembl
Outerchr4:7691152..7694250hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3365716
Supporting Variants
SamplesNA19239
Known GenesSORCS2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694503
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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