A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8923894



Internal ID14512789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:33633219..33633233hg38UCSC Ensembl
Innerchr5:33633210..33633242hg38UCSC Ensembl
Outerchr5:33633194..33633256hg38UCSC Ensembl
chr5:33633324..33633338hg19UCSC Ensembl
Innerchr5:33633315..33633347hg19UCSC Ensembl
Outerchr5:33633299..33633361hg19UCSC Ensembl
chr5:33669081..33669095hg18UCSC Ensembl
Innerchr5:33669104..33669072hg18UCSC Ensembl
Outerchr5:33669056..33669118hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38794
hg19794
hg18794
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3321595
Supporting Variants
SamplesNA19114
Known GenesADAMTS12
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8923894
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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