A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657439



Internal ID9923544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:208551379..208565379hg38UCSC Ensembl
chr1:208724724..208738724hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3814001
hg1914001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6402133
SamplesNA18534
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657439
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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