A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8675360



Internal ID13720829
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 StatusS
Merged Variantsesv3395902
Supporting Variants
SamplesNA12892
Known GenesSYNPO2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8675360
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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