A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15481369



Internal ID2652783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:55746284..55790562hg38UCSC Ensembl
Innerchr16:55746434..55790412hg38UCSC Ensembl
Outerchr16:55746134..55790712hg38UCSC Ensembl
chr16:55780196..55824474hg19UCSC Ensembl
Innerchr16:55780346..55824324hg19UCSC Ensembl
Outerchr16:55780046..55824624hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3844279
hg1944279
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638685
Supporting Variants
SamplesHG02348
Known GenesCES1P1, CES1P2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15481369
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