A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5430101



Internal ID9307472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:5181956..5182453hg38UCSC Ensembl
Outerchr17:5181799..5182606hg38UCSC Ensembl
Innerchr17:5085251..5085748hg19UCSC Ensembl
Outerchr17:5085094..5085901hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38808
hg19808
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2659024
Supporting Variants
SamplesNA18498
Known GenesZNF594
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5430101
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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