A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8922807



Internal ID14282131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:185823542..185823566hg38UCSC Ensembl
Innerchr4:185823552..185823554hg38UCSC Ensembl
Outerchr4:185823528..185823580hg38UCSC Ensembl
chr4:186744696..186744720hg19UCSC Ensembl
Innerchr4:186744706..186744708hg19UCSC Ensembl
Outerchr4:186744682..186744734hg19UCSC Ensembl
chr4:186981690..186981714hg18UCSC Ensembl
Innerchr4:186981702..186981700hg18UCSC Ensembl
Outerchr4:186981676..186981728hg18UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38202
hg19202
hg18202
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3374565
Supporting Variants
SamplesNA18603
Known GenesSORBS2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8922807
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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