A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15567769



Internal ID5569585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:88851052..88851832hg38UCSC Ensembl
Innerchr16:88851052..88851832hg38UCSC Ensembl
Outerchr16:88850771..88852087hg38UCSC Ensembl
chr16:88917460..88918240hg19UCSC Ensembl
Innerchr16:88917460..88918240hg19UCSC Ensembl
Outerchr16:88917179..88918495hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38781
hg19781
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639562
Supporting Variants
SamplesNA19064
Known GenesGALNS
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15567769
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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