A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694750



Internal ID14700635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:33626490..33627788hg38UCSC Ensembl
Innerchr5:33626788..33627490hg38UCSC Ensembl
Outerchr5:33625490..33628788hg38UCSC Ensembl
chr5:33626595..33627893hg19UCSC Ensembl
Innerchr5:33626893..33627595hg19UCSC Ensembl
Outerchr5:33625595..33628893hg19UCSC Ensembl
chr5:33662352..33663650hg18UCSC Ensembl
Innerchr5:33663352..33662650hg18UCSC Ensembl
Outerchr5:33661352..33664650hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3330229
Supporting Variants
SamplesNA19239
Known GenesADAMTS12
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694750
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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