A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5902534



Internal ID8992629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:20336164..20345085hg38UCSC Ensembl
Outerchr17:20336127..20345135hg38UCSC Ensembl
Innerchr17:20239477..20248398hg19UCSC Ensembl
Outerchr17:20239440..20248448hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg389009
hg199009
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2672480
Supporting Variants
SamplesHG00589
Known GenesCCDC144CP
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5902534
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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