A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585023



Internal ID6972548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2230667..2231761hg38UCSC Ensembl
Innerchr1:2230667..2231761hg38UCSC Ensembl
Outerchr1:2230576..2231836hg38UCSC Ensembl
chr1:2162106..2163200hg19UCSC Ensembl
Innerchr1:2162106..2163200hg19UCSC Ensembl
Outerchr1:2162015..2163275hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg381095
hg191095
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9841601
SamplesNA18910
Known GenesSKI
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585023
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