A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8923970



Internal ID13441966
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 StatusS
Merged Variantsesv3443849
Supporting Variants
SamplesNA18502
Known GenesADAMTS12
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8923970
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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