A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15545354



Internal ID5547170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:83705257..83708829hg38UCSC Ensembl
Innerchr16:83705307..83708779hg38UCSC Ensembl
Outerchr16:83705173..83708913hg38UCSC Ensembl
chr16:83738862..83742434hg19UCSC Ensembl
Innerchr16:83738912..83742384hg19UCSC Ensembl
Outerchr16:83738778..83742518hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg383573
hg193573
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639392
Supporting Variants
SamplesNA20756
Known GenesCDH13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15545354
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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