A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690706



Internal ID13705987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:32640521..32640819hg38UCSC Ensembl
Innerchr17:32640520..32640820hg38UCSC Ensembl
Outerchr17:32639521..32641819hg38UCSC Ensembl
chr17:30967539..30967837hg19UCSC Ensembl
Innerchr17:30967538..30967838hg19UCSC Ensembl
Outerchr17:30966539..30968837hg19UCSC Ensembl
chr17:27991652..27991950hg18UCSC Ensembl
Innerchr17:27991951..27991651hg18UCSC Ensembl
Outerchr17:27990652..27992950hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38299
hg19299
hg18299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3342524
Supporting Variants
SamplesNA12891
Known GenesMYO1D
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690706
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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