A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585369



Internal ID6972893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:17513836..17517807hg38UCSC Ensembl
Innerchr1:17513836..17517807hg38UCSC Ensembl
Outerchr1:17513595..17518062hg38UCSC Ensembl
chr1:17840332..17844303hg19UCSC Ensembl
Innerchr1:17840332..17844303hg19UCSC Ensembl
Outerchr1:17840091..17844558hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg383972
hg193972
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9876181
SamplesNA18637
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585369
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