A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864344



Internal ID12970114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:76959255..76959268hg38UCSC Ensembl
Innerchr4:76959257..76959266hg38UCSC Ensembl
Outerchr4:76959253..76959270hg38UCSC Ensembl
chr4:77880408..77880421hg19UCSC Ensembl
Innerchr4:77880410..77880419hg19UCSC Ensembl
Outerchr4:77880406..77880423hg19UCSC Ensembl
chr4:78099432..78099445hg18UCSC Ensembl
Innerchr4:78099434..78099443hg18UCSC Ensembl
Outerchr4:78099430..78099447hg18UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3451658
Supporting Variants
SamplesNA12005
Known GenesSEPT11
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864344
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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