A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639557



Internal ID6679649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:88762408..88764496hg38UCSC Ensembl
Innerchr16:88762408..88764496hg38UCSC Ensembl
Outerchr16:88762145..88764797hg38UCSC Ensembl
chr16:88828816..88830904hg19UCSC Ensembl
Innerchr16:88828816..88830904hg19UCSC Ensembl
Outerchr16:88828553..88831205hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg382089
hg192089
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15566722
SamplesHG01811
Known GenesPIEZO1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639557
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer