A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15545336



Internal ID5547152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:83305058..83332065hg38UCSC Ensembl
Innerchr16:83305077..83332046hg38UCSC Ensembl
Outerchr16:83305039..83332084hg38UCSC Ensembl
chr16:83338663..83365670hg19UCSC Ensembl
Innerchr16:83338682..83365651hg19UCSC Ensembl
Outerchr16:83338644..83365689hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg3827008
hg1927008
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639387
Supporting Variants
SamplesHG02075
Known GenesCDH13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15545336
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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