A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15441723



Internal ID5443539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29881201..29882765hg38UCSC Ensembl
Innerchr16:29881201..29882765hg38UCSC Ensembl
Outerchr16:29881134..29882826hg38UCSC Ensembl
chr16:29892522..29894086hg19UCSC Ensembl
Innerchr16:29892522..29894086hg19UCSC Ensembl
Outerchr16:29892455..29894147hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381565
hg191565
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638374
Supporting Variants
SamplesHG02026
Known GenesSEZ6L2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15441723
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