A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5735760



Internal ID8713163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:31515615..31810222hg38UCSC Ensembl
chr16:31526936..31821543hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38294608
hg19294608
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2658959
Supporting Variants
SamplesNA19703
Known GenesAHSP, CLUHP3, YBX3P1, ZNF720
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5735760
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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