A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6404690



Internal ID9382093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78509047..78509229hg38UCSC Ensembl
chr17:76505129..76505311hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38183
hg19183
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2674887
Supporting Variants
SamplesNA12878
Known GenesDNAH17
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6404690
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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