A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15523318



Internal ID5525134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:75476237..75490082hg38UCSC Ensembl
Innerchr16:75476237..75490082hg38UCSC Ensembl
Outerchr16:75475737..75490582hg38UCSC Ensembl
chr16:75510135..75523980hg19UCSC Ensembl
Innerchr16:75510135..75523980hg19UCSC Ensembl
Outerchr16:75509635..75524480hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3813846
hg1913846
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639093
Supporting Variants
SamplesHG03439
Known GenesCHST6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15523318
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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