A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8926488



Internal ID14406276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:124546675..124546723hg38UCSC Ensembl
Innerchr5:124546675..124546721hg38UCSC Ensembl
Outerchr5:124546629..124546769hg38UCSC Ensembl
chr5:123882368..123882416hg19UCSC Ensembl
Innerchr5:123882368..123882414hg19UCSC Ensembl
Outerchr5:123882322..123882462hg19UCSC Ensembl
chr5:123910267..123910315hg18UCSC Ensembl
Innerchr5:123910313..123910267hg18UCSC Ensembl
Outerchr5:123910221..123910361hg18UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38207
hg19207
hg18207
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3410035
Supporting Variants
SamplesNA18907
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8926488
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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