A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8678921



Internal ID14760503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:107400294..107400313hg38UCSC Ensembl
Innerchr5:107400290..107400317hg38UCSC Ensembl
Outerchr5:107400271..107400336hg38UCSC Ensembl
chr5:106735995..106736014hg19UCSC Ensembl
Innerchr5:106735991..106736018hg19UCSC Ensembl
Outerchr5:106735972..106736037hg19UCSC Ensembl
chr5:106763894..106763913hg18UCSC Ensembl
Innerchr5:106763917..106763890hg18UCSC Ensembl
Outerchr5:106763871..106763936hg18UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3381925
Supporting Variants
SamplesNA19240
Known GenesEFNA5
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8678921
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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