A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586528



Internal ID6974048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:77743550..77754508hg38UCSC Ensembl
Innerchr1:77743581..77754478hg38UCSC Ensembl
Outerchr1:77743520..77754539hg38UCSC Ensembl
chr1:78209235..78220193hg19UCSC Ensembl
Innerchr1:78209266..78220163hg19UCSC Ensembl
Outerchr1:78209205..78220224hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3810959
hg1910959
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9980987
SamplesHG03829
Known GenesUSP33
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586528
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