A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15478710



Internal ID2138659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:52836741..52855078hg38UCSC Ensembl
Innerchr16:52836752..52855068hg38UCSC Ensembl
Outerchr16:52836731..52855089hg38UCSC Ensembl
chr16:52870653..52888990hg19UCSC Ensembl
Innerchr16:52870664..52888980hg19UCSC Ensembl
Outerchr16:52870643..52889001hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3818338
hg1918338
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638640
Supporting Variants
SamplesHG01939
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15478710
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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