A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7797196



Internal ID14390048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:77130617..77130618hg38UCSC Ensembl
Innerchr5:77130598..77130637hg38UCSC Ensembl
Outerchr5:77130597..77130638hg38UCSC Ensembl
chr5:76426442..76426443hg19UCSC Ensembl
Innerchr5:76426423..76426462hg19UCSC Ensembl
Outerchr5:76426422..76426463hg19UCSC Ensembl
chr5:76462198..76462199hg18UCSC Ensembl
Innerchr5:76462218..76462179hg18UCSC Ensembl
Outerchr5:76462178..76462219hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg386016
hg196016
hg186016
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3307010
Supporting Variants
SamplesNA18870
Known GenesZBED3-AS1
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7797196
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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