A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658314



Internal ID9924419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:78478445..78478851hg38UCSC Ensembl
Outerchr17:78478390..78478936hg38UCSC Ensembl
Innerchr17:76474527..76474933hg19UCSC Ensembl
Outerchr17:76474472..76475018hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38547
hg19547
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5537629, essv6258308, essv5590976, essv5626682, essv5466225, essv5938083, essv5633392, essv5901099, essv5442899, essv5607025, essv6384828, essv6067211
SamplesNA12751, NA12155, NA18558, NA18964, NA11930, NA11932, NA20810, NA11919, NA12829, NA18632, HG00734, NA06986
Known GenesDNAH17
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658314
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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