A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8675582



Internal ID15046133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:31974505..31974556hg38UCSC Ensembl
Innerchr4:31974510..31974551hg38UCSC Ensembl
Outerchr4:31974459..31974602hg38UCSC Ensembl
chr4:31976127..31976178hg19UCSC Ensembl
Innerchr4:31976132..31976173hg19UCSC Ensembl
Outerchr4:31976081..31976224hg19UCSC Ensembl
chr4:31620025..31620076hg18UCSC Ensembl
Innerchr4:31620071..31620030hg18UCSC Ensembl
Outerchr4:31619979..31620122hg18UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg38249
hg19249
hg18249
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3432007
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8675582
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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