A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6122325



Internal ID8960023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:57649054..57649249hg38UCSC Ensembl
Outerchr17:57649017..57649299hg38UCSC Ensembl
Innerchr17:55726415..55726610hg19UCSC Ensembl
Outerchr17:55726378..55726660hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38283
hg19283
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2657730
Supporting Variants
SamplesHG00530
Known GenesMSI2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6122325
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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