A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586554



Internal ID6626864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:78649309..78655867hg38UCSC Ensembl
Innerchr1:78649323..78655854hg38UCSC Ensembl
Outerchr1:78649296..78655881hg38UCSC Ensembl
chr1:79114994..79121552hg19UCSC Ensembl
Innerchr1:79115008..79121539hg19UCSC Ensembl
Outerchr1:79114981..79121566hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg386559
hg196559
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9982956
SamplesNA19835
Known GenesIFI44
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586554
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