A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5542652



Internal ID8520055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:38939144..38941247hg38UCSC Ensembl
Outerchr17:38939107..38941297hg38UCSC Ensembl
Innerchr17:37095397..37097500hg19UCSC Ensembl
Outerchr17:37095360..37097550hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg382191
hg192191
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2669787
Supporting Variants
SamplesHG01108
Known GenesFBXO47
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5542652
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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