A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16071013



Internal ID6072829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:47147304..47148860hg38UCSC Ensembl
Innerchr19:47147306..47148859hg38UCSC Ensembl
Outerchr19:47147303..47148862hg38UCSC Ensembl
chr19:47650561..47652117hg19UCSC Ensembl
Innerchr19:47650563..47652116hg19UCSC Ensembl
Outerchr19:47650560..47652119hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg381557
hg191557
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644546
Supporting Variants
SamplesHG03830
Known GenesSAE1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16071013
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