A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3443849



Internal ID14944116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:33833484..33833506hg38UCSC Ensembl
Innerchr5:33833488..33833500hg38UCSC Ensembl
Outerchr5:33833466..33833522hg38UCSC Ensembl
chr5:33833589..33833611hg19UCSC Ensembl
Innerchr5:33833593..33833605hg19UCSC Ensembl
Outerchr5:33833571..33833627hg19UCSC Ensembl
chr5:33869346..33869368hg18UCSC Ensembl
Innerchr5:33869362..33869350hg18UCSC Ensembl
Outerchr5:33869328..33869384hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38239
hg19239
hg18239
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8923970, essv8923967, essv8923968
SamplesNA18861, NA18501, NA18502
Known GenesADAMTS12
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3443849
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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