A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3386093



Internal ID14886375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:39975448..39975460hg38UCSC Ensembl
Innerchr17:39975451..39975457hg38UCSC Ensembl
Outerchr17:39975439..39975469hg38UCSC Ensembl
chr17:38131701..38131713hg19UCSC Ensembl
Innerchr17:38131704..38131710hg19UCSC Ensembl
Outerchr17:38131692..38131722hg19UCSC Ensembl
chr17:35385227..35385239hg18UCSC Ensembl
Innerchr17:35385236..35385230hg18UCSC Ensembl
Outerchr17:35385218..35385248hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865975
SamplesNA12005
Known GenesGSDMA
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3386093
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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