A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3356630



Internal ID14856893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:33797440..33797455hg38UCSC Ensembl
Innerchr5:33797437..33797458hg38UCSC Ensembl
Outerchr5:33797422..33797473hg38UCSC Ensembl
chr5:33797545..33797560hg19UCSC Ensembl
Innerchr5:33797542..33797563hg19UCSC Ensembl
Outerchr5:33797527..33797578hg19UCSC Ensembl
chr5:33833302..33833317hg18UCSC Ensembl
Innerchr5:33833320..33833299hg18UCSC Ensembl
Outerchr5:33833284..33833335hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg386039
hg196039
hg186039
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8923965, essv8923963, essv8923961, essv8923959, essv8923957, essv8923955, essv8923966, essv8923956, essv8923962, essv8923960, essv8923964, essv8923954
SamplesNA12489, NA18605, NA07051, NA12763, NA18563, NA12716, NA19005, NA18558, NA18961, NA18582, NA18571, NA12717
Known GenesADAMTS12
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3356630
Frequency
Sample Size185
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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