A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3430649



Internal ID15277605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:77130620..77130639hg38UCSC Ensembl
Innerchr5:77130616..77130643hg38UCSC Ensembl
Outerchr5:77130597..77130662hg38UCSC Ensembl
chr5:76426445..76426464hg19UCSC Ensembl
Innerchr5:76426441..76426468hg19UCSC Ensembl
Outerchr5:76426422..76426487hg19UCSC Ensembl
chr5:76462201..76462220hg18UCSC Ensembl
Innerchr5:76462224..76462197hg18UCSC Ensembl
Outerchr5:76462178..76462243hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9622903
SamplesNA19141
Known GenesZBED3-AS1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3430649
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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