A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7826599



Internal ID14269286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:28319129..28319130hg38UCSC Ensembl
Innerchr4:28319111..28319148hg38UCSC Ensembl
Outerchr4:28319110..28319149hg38UCSC Ensembl
chr4:28320751..28320752hg19UCSC Ensembl
Innerchr4:28320733..28320770hg19UCSC Ensembl
Outerchr4:28320732..28320771hg19UCSC Ensembl
chr4:27929849..27929850hg18UCSC Ensembl
Innerchr4:27929868..27929831hg18UCSC Ensembl
Outerchr4:27929830..27929869hg18UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg38297
hg19297
hg18297
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3305062
Supporting Variants
SamplesNA18593
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7826599
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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