A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303609



Internal ID15150557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:124546652..124546653hg38UCSC Ensembl
Innerchr5:124546585..124546720hg38UCSC Ensembl
Outerchr5:124546584..124546721hg38UCSC Ensembl
chr5:123882345..123882346hg19UCSC Ensembl
Innerchr5:123882278..123882413hg19UCSC Ensembl
Outerchr5:123882277..123882414hg19UCSC Ensembl
chr5:123910244..123910245hg18UCSC Ensembl
Innerchr5:123910312..123910177hg18UCSC Ensembl
Outerchr5:123910176..123910313hg18UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38249
hg19249
hg18249
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7746642, essv7743109, essv7763086, essv7740468
SamplesNA18504, NA18916, NA19138, NA18907
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303609
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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