A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3372752



Internal ID14873012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:33633228..33633239hg38UCSC Ensembl
Innerchr5:33633218..33633246hg38UCSC Ensembl
Outerchr5:33633207..33633257hg38UCSC Ensembl
chr5:33633333..33633344hg19UCSC Ensembl
Innerchr5:33633323..33633351hg19UCSC Ensembl
Outerchr5:33633312..33633362hg19UCSC Ensembl
chr5:33669090..33669101hg18UCSC Ensembl
Innerchr5:33669108..33669080hg18UCSC Ensembl
Outerchr5:33669069..33669119hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38608
hg19608
hg18608
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8675909, essv8675907, essv8675911, essv8675910
SamplesNA12891, NA19238, NA12878, NA12892
Known GenesADAMTS12
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3372752
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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