A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643535



Internal ID7030294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:5657716..5658193hg38UCSC Ensembl
Innerchr19:5657733..5658176hg38UCSC Ensembl
Outerchr19:5657699..5658210hg38UCSC Ensembl
chr19:5657727..5658204hg19UCSC Ensembl
Innerchr19:5657744..5658187hg19UCSC Ensembl
Outerchr19:5657710..5658221hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38478
hg19478
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15984141, essv15984142, essv15984143
SamplesHG01599, HG01851, HG02134
Known GenesSAFB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643535
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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