A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15478754



Internal ID5480570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:53427199..53440126hg38UCSC Ensembl
Innerchr16:53427199..53440126hg38UCSC Ensembl
Outerchr16:53426699..53440626hg38UCSC Ensembl
chr16:53461111..53474038hg19UCSC Ensembl
Innerchr16:53461111..53474038hg19UCSC Ensembl
Outerchr16:53460611..53474538hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3812928
hg1912928
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638649
Supporting Variants
SamplesHG01938
Known GenesRBL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15478754
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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