A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15441779



Internal ID5443595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30936363..30938698hg38UCSC Ensembl
Innerchr16:30936405..30938657hg38UCSC Ensembl
Outerchr16:30936322..30938740hg38UCSC Ensembl
chr16:30947684..30950019hg19UCSC Ensembl
Innerchr16:30947726..30949978hg19UCSC Ensembl
Outerchr16:30947643..30950061hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg382336
hg192336
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638389
Supporting Variants
SamplesNA20291
Known GenesFBXL19
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15441779
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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