A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644590



Internal ID6684656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48565592..48572246hg38UCSC Ensembl
chr19:49068849..49075503hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg386655
hg196655
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16072792, essv16072793, essv16072794
SamplesHG01432, HG02537, HG01842
Known GenesSULT2B1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644590
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