A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644557



Internal ID6684624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:47686591..47690200hg38UCSC Ensembl
Innerchr19:47686641..47690150hg38UCSC Ensembl
Outerchr19:47686541..47690250hg38UCSC Ensembl
chr19:48189848..48193457hg19UCSC Ensembl
Innerchr19:48189898..48193407hg19UCSC Ensembl
Outerchr19:48189798..48193507hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg383610
hg193610
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16071057
SamplesNA07037
Known GenesGLTSCR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644557
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