A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16056198



Internal ID5133388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:42200429..42202078hg38UCSC Ensembl
Innerchr19:42200431..42202076hg38UCSC Ensembl
Outerchr19:42200427..42202080hg38UCSC Ensembl
chr19:42704581..42706230hg19UCSC Ensembl
Innerchr19:42704583..42706228hg19UCSC Ensembl
Outerchr19:42704579..42706232hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg381650
hg191650
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644398
Supporting Variants
SamplesNA18567
Known GenesDEDD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16056198
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