A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3395902



Internal ID15242866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:118853548..118853574hg38UCSC Ensembl
Innerchr4:118853546..118853573hg38UCSC Ensembl
Outerchr4:118853520..118853599hg38UCSC Ensembl
chr4:119774703..119774729hg19UCSC Ensembl
Innerchr4:119774701..119774728hg19UCSC Ensembl
Outerchr4:119774675..119774754hg19UCSC Ensembl
chr4:119994151..119994177hg18UCSC Ensembl
Innerchr4:119994176..119994149hg18UCSC Ensembl
Outerchr4:119994123..119994202hg18UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38285
hg19285
hg18285
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8675360, essv8675359
SamplesNA12878, NA12892
Known GenesSYNPO2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3395902
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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