A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5425454



Internal ID8402857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:26964210..27423633hg38UCSC Ensembl
Outerchr17:26964176..27423668hg38UCSC Ensembl
Innerchr17:25291236..25750659hg19UCSC Ensembl
Outerchr17:25291202..25750694hg19UCSC Ensembl
Cytoband17q11.1
Allele length
AssemblyAllele length
hg38459493
hg19459493
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2657294
Supporting Variants
SamplesHG00276
Known GenesMIR4522, TBC1D3P5, WSB1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5425454
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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