A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15520459



Internal ID5522275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:75319727..75350724hg38UCSC Ensembl
Innerchr16:75319760..75350691hg38UCSC Ensembl
Outerchr16:75319694..75350757hg38UCSC Ensembl
chr16:75353625..75384622hg19UCSC Ensembl
Innerchr16:75353658..75384589hg19UCSC Ensembl
Outerchr16:75353592..75384655hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3830998
hg1930998
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639088
Supporting Variants
SamplesNA19901
Known GenesCFDP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15520459
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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