A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643456



Internal ID7030218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:3119310..3121019hg38UCSC Ensembl
Innerchr19:3119310..3121019hg38UCSC Ensembl
Outerchr19:3118998..3121300hg38UCSC Ensembl
chr19:3119308..3121017hg19UCSC Ensembl
Innerchr19:3119308..3121017hg19UCSC Ensembl
Outerchr19:3118996..3121298hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381710
hg191710
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15974548, essv15974549, essv15974550, essv15974551
SamplesNA18486, HG02485, NA19818, NA19900
Known GenesGNA11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643456
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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